Atlas of clinical diagnosis 2nd ed (2003)

ATLAS OFCLINICAL DIAGNOSIS

DedicationTo the memory of my dear mother, TAJ, who said to me,'Get knowledge from whoever has it, and give it freely toanyone who asks for it, for learning is the noblest form ofbegging'.

Commissioning Editor: Laurence HunterProject Development Manager: Sian JarmanProject Manager: Nancy ArnottDesign Direction: Erik BiglandIllustration Manager: Bruce Hogarth

ATLAS OFCLINICAL DIAGNOSIS

M. Afzal Mir DCH FRCPFormer Senior Lecturer and Consultant Physician

University Hospital of Wales, Cardiff

SECOND EDITION

EDINBURGH LONDON NEW YORK PHILADELPHIA ST LOUIS SYDNEY TORONTO 2003

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First published 1995Second edition 2003

ISBN 0-7020-2668-9

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Preface

The traditional teaching of clinical medicine by thebedside, by lectures, tutorials and through textbooks ismainly system- and disease-oriented. Diseases are pre-sented under their relevant system headings and all theclinical manifestations, irrespective of their regional andanatomical diversity, are presented under each disease.This discipline of learning clinical medicine is contraryto how it is practised in real life, where the history andexamination may have to be constructed on a singlesymptom or an asymptomatic sign. The patient presentswith one or more symptoms and the examiner, duringhistory-taking and clinical examination, takes note ofvarious signs that are present and constructs a diagnosisfrom these.

In this book I have endeavoured to mirror life and havepresented signs as they are likely to be seen on a visualsurvey of a patient, starting at the face and moving downstep-by-step to the feet. A brief description of each diseaseis given as the part of the body it affects is covered inthe sequence of the scalp-to-sole survey, and with eachmention of a condition a few more details are added. Thebook explores the visual content of clinical medicine andcovers both pathognomonic and fundamental signs as wellas non-specific signs. These clinical features presented inan anatomical context will, hopefully, offer an iterativestimulus to the student's memory and thereby help theretentive ability of the reader. Thus, this atlas presents thesynthesis of a clinical diagnosis from the features scatteredaround the body and encourages the student to look forthese.

In this age of 'superspecialization', it is becomingincreasingly difficult for undergraduates as well as post-graduate students anywhere in the world to see the fullspectrum of clinical signs. The increasing demands on theclinical curriculum from the advancing old specialities andemerging new ones have reduced the time available to stu-dents to experience the full breadth of clinical medicine.Today it is quite usual to find students graduating fromvarious medical schools in this and other countries with noclinical instruction in, for example, dermatology, rheuma-tology or neurology! This problem is compounded by thefact that many diseases are often treated early, more effec-tively and now, more often, in the community. There arefewer opportunities for students to see the usual and lesscommon signs, and yet they are likely to be confrontedwith these signs in examination and in their subsequentclinical practice. In this book I have addressed this problemby covering as much neurology, dermatology, rheumatol-

ogy and ophthalmology as may confront a hospital doctorand a general practitioner. In addition to the colour pic-tures of the clinical signs of each condition presented here,anatomical sketches and line diagrams have been included,wherever appropriate, both to improve the understandingof clinical features and to cover some important, but non-visual signs.

This book presents a structured approach to clinicaldiagnosis from a single sign, suggests other areas to lookat for relevant supplementary signs and, at appropriateplaces, gives the critical 'chairside' tests to confirm a diag-nosis. This approach makes some repetition inevitable, butthis has been kept to a minimum and the clinical signs havebeen cross-referenced for easy revision.

When I started work on the first edition of this bookmy main objective was to present a pictorial guide forthe inspection part of the clinical assessment. Some ofmy well-wisher colleagues had expressed understandabledoubt about the success of such a venture in an agewhen technology makes it possible to see the condition ofalmost any internal organ. Contemporary clinical practicetends to suggest that the budding clinician of todaywould much rather get an ultrasound of the abdomenthan spend time at looking at its external contours. I feltthat my modest effort would at least serve those studentswhose self-esteem would not allow them to dispense withwhat their eyes could do before calling technology to theiraid. It is pleasing to note that in the UK and USA 12,000copies have been sold and the book was translated intoseven languages. Bedside medicine is not dead after all! Iam grateful to all those who have found this book of someuse and have encouraged me to produce the secondedition.

In introducing some embellishments I have taken advicemainly from students who have generously given theircomments to me. In the first edition, I had omitted thelegends because I thought that students would have achance to make their own observations before reading thetext to look for the diagnosis. I am told that it would bepreferable to have the legends giving the telling feature ofeach picture, and that it would also help students to applyappropriate descriptive terms. In addition to providing thelegends, I have made some amendments and additions tothe text. I have withdrawn seven pictures that were eitherrepetitive or unsatisfactory, replaced eight others withthose with more expressive visual content, and introduced39 pictures with additional signs. I hope the students willfind these changes useful.

PREFACE

Once again I would like to thank all staff of the MediaResource Centre, University of Wales College of Medicine,for their continued cooperation in producing the imagesshown in this book. I would like to thank my wife, Lynda,

who has always encouraged and helped me in theseventures.

Cardiff A.M.2003

Acknowledgements

Although more than one-half of the illustrations used inthis book come from my personal collection, I needed helpfrom many other colleagues in covering the broad rangeof clinical medicine, including some rare and unusual con-ditions. My largest source was the archives of the Depart-ment of Medical Illustrations and Audiovisual Services atthe University of Wales College of Medicine. I am gratefulto Professor Ralph Marshall who was the director of thedepartment and has now retired. My thanks also go toRachael Konten for helping me search for the appropriateslides. I an indebted to Mrs Joe Dunlop-Rowles from theMedical Illustration Department at the Cardiff RoyalInfirmary for providing me with the slides of some rareconditions. I gratefully acknowledge the help and advice ofDr Anne Freeman who read the entire manuscript at anearlier stage. I am grateful to all those listed below whohave generously helped me by lending their slides andgiving me their valuable advice:

Professor M Addy (Bristol); Mrs L Beck (Cardiff); Mr KBellamy (Cardiff); Professor L K Borysiewicz (London);

Professor D A S Compston (Cambridge); Dr A C Douglas(Edinburgh); Mrs J Dunlop-Rowles (Cardiff); ProfessorG Elder (Cardiff); the late Mr R W Evans (Cardiff);Professor A Y Finlay (Cardiff); Dr A Freeman (Cardiff);Dr J G Graham (Cardiff); Dr M Hall (Cardiff); the late Pro-fessor R Hall (Cardiff); Professor L E Hughes (Cardiff);Dr J D Jessop (Cardiff); Dr M K Jones (Swansea); DrA G Knight (Cardiff); Mrs R Konten (Cardiff); Mrs CLane (Cardiff); Professor J H Lazarus (Cardiff); Mr SMcAllister (Cardiff); Professor R Marks (Cardiff); Pro-fessor R J Marshall (Cardiff); Dr R Mattley (Cardiff);Professor T S Maughan (Cardiff); Dr R Mills (Cardiff);Professor D Owen (Cardiff); Mr M Puntis (Cardiff); Pro-fessor J Rhodes (Cardiff); Professor A K Saeed (Pakistan);Professor M F Scanlon (Cardiff); Professor D J Shale(Cardiff); Dr P Smith (Cardiff); Dr J M Stansbie (Coven-try); Dr J P Thomas (Cardiff); Professor A P Weetman(Sheffield); the late Dr C Wells (Cardiff); Dr J A Whittaker(Cardiff); Professor M Wiles (Cardiff); Mr S Young(Cardiff).

Contents

1 THE FACE 1

The visual scan 1The apparently normal face 1Abnormal facies 3

Endocrine facies 3Neuromuscular facies 21Skin and mucosal lesions 34Miscellaneous facial disorders 60

• 2 THE MOUTH 69

The lips 69The gums and teeth 72The tongue 78The palate and pharynx 86

• 3 THE EXTERNAL EYE 89

The eyelids and orbit 89The conjunctiva 93The cornea 97The uveal tract 100The sclera 102The lens 103

6 THE NECK 129

7 THE CHEST 141

8 THE ABDOMEN 151

• 9 THE HANDS 157

Arthropathies 157Skin lesions 166

Dermatoses 167Systemic disorders 173

Neuromuscular disorders 177Additional signs of systemic disorders 183Fundamental signs 190

• 1 0 THE NAILS 197

Disorders of the nails 198Dermatological diseases 198

Congenital and systemic disorders 202

• 4 THE OPTIC FUNDUS 105

The normal fundus 106The abnormal fundus 107

The optic disc 107The retinal vessels 110The retina and macula 119

• 1 1 THE LEGS 215

Endocrine disorders 217Locomotor problems 225Neuromuscular disorders 232Vascular and other systemic disorders 234Skin lesions 244

5 THE EARS 123 INDEX 255

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1 THE FACE

The visual scanThe face is the most revealing area of the body, showingthe features of its physical and psychological well-beingand disease. In no other part of the body can one find somany signs of clinical disorders. Face-to-face contact isoften the first interaction with the patient and thus formsan essential part of the clinical examination. Althoughlooking at someone's face is considered to be friendly,staring is not. For this reason it is important to develop anunobtrusive method of scanning a face that takes just a fewseconds. The objectives of this first look should be todecide whether there is anything abnormal and whether afurther assessment is necessary. Although a detailedscrutiny may be required to confirm an initial impression,this should be broken into several brief sections therebycovering the various subsections of the face, and recallingthe possible abnormalities associated with them (Tables1.1 and 1.2).

At first sight one should establish eye contact and decidewhether the face and head look normal or whether thereare characteristic features suggestive of an endocrine, neu-romuscular or a dermatological disorder.

The apparently normalfaceThere are two situations when an apparently normal-looking face has to be scrutinized carefully before accept-ing it as normal. First, from other circumstantial evidence

it may be suspected that the patient has a systemic disor-der, in which facial abnormalities occur but none is obviousat first sight. Second, one may be called upon to make a'spot' diagnosis of a subtle abnormality, either in anexamination setting or on a clinical ward round.

It is a good habit to inspect the face in separate parts,with the objective of excluding an abnormality from eachpart. Thus, if from initial scanning of the eyes nothingobvious is seen, all the individual structures that make upthe eyes should be scrutinized sequentially (see Table 1.1).There may be a mild degree of ptosis or a heliotrope rashon the upper eyelids (dermatomyositis); the eyelashes maybe sparse or absent (alopecia); there may be an arcusaround a part or whole of the cornea (normal in theelderly, but possibly seen at an early age in diabetesmellitus and hypercholesterolaemia); the cornea may beopaque with a ground-glass appearance (congenitalsyphilis); the sclerotics may be mildly icteric (haemolyticor hepatic disorders), or may have a bluish tint (osteogene-sis imperfecta); the pupils may be small, irregular, largeor asymmetrical; the lens may be opaque or dislocated(Marfan's syndrome); the iris may have lost its distinct fea-tures ('muddy iris' in iritis); and the conjunctiva may bedry (keratoconjunctivitis sicca), pale, particularly in thegutterings (anaemia), icteric or congested (superior venacaval obstruction, polycythaemia).

More detailed examples of the signs listed in Table 1.1are given in relevant chapters. Suffice it here to say thatsome of these abnormalities are hardly obvious unlessspecifically looked for. For example, a mild degree of ptosiswith unequal pupils (1.1), a yellowish (1.2) or bluish tint tothe sclerotics (1.3), or even fairly obvious xanthelasmatamay all be missed unless the observer, however briefly,

1.1Miosis (<2mm) andpartial ptosis of the lefteye

1.2Yellow sclera

ATLAS OF CLINICAL DIAGNOSIS

Table 1.1 Substructure scrutiny of the eyes

Structures Signs

Eyelids Ptosis, lid retraction, puffiness, heliotrope rash

Eyelashes Scanty/absent

Cornea Calcification (band keratopathy)

Arcus

Opacity

Sclera Yellowish

Bluish

Lens Opaque

Dislocation

Pupils Unequal, small

Iris Shimmering

'Muddy'

Conjunctiva Pale

Icteric

Congested

Conditions

Hemiparesis, myopathy, Graves' disease, allergy,

hypothyroidism, dermatomyositis

Alopecia

Hyperparathyroidism

Senescence, hypercholesterolaemia, diabetes mellitus

Old keratitis, congenital syphilis

Jaundice

Osteogenesis imperfecta

Cataract from any cause

Marfan's syndrome

Holmes-Adie, Argyll Robertson pupils, third cranial nerve palsy

Dislocated or absent lens

Iritis

Anaemia, low perfusion state

Jaundice

Conjunctivitis, polycythaemia rubra vera, superior vena cava

obstruction

1.3Thin, blue sclerae

1.5Left external rectus palsy

1.4Xanthelasma

1.6Droopy left side

1.7Immobile left face

THE FACE

focuses on the eyes (1.4). Similarly, asymmetry of the eye-balls will be easily missed by an observer who does notlook at both eyes and follow the patient's gaze (1.5).

After inspecting the eyes, a purposeful glance over therest of the face will reveal any asymmetry, erythema,scarring or plaques. A slight asymmetry of the face andthe angles of the mouth (1.6) may escape notice unless theobserver is looking for it. Some normal faces are asym-metrical and the temptation to diagnose a facial nervepalsy should be resisted until the facial muscles are seen inaction (1.7).

The mouth should be viewed for circumoral wrinkling(systemic sclerosis) and for the fine, angular wrinkling ofgonadotrophin failure. Angular cheilitis caused by drib-bling from ill-fitting dentures or deficiency states of ironor riboflavin may not be obvious unless specially lookedfor. The inside of the mouth and the tongue should beinspected for telangiectasia (Osler-Weber-Rendu syn-drome), cyanosis and pigmentation (Addison's disease).The whole face can be covered rapidly in this manner. Inmost cases, having spotted an abnormality and formed aninitial impression, the examiner can carry out further'chairside' clinical tests to confirm or refute the suspecteddiagnosis.

Abnormal faciesIf the face looks abnormal then a logical way to proceedfurther would be to characterize the appearance so that itcan be placed in one of the four groups of abnormal facies(Table 1.2).

Endocrine faciesAcromegalyThe face may show one or more of the many characteris-tic features associated with acromegaly (1.8). The patientmay have prominent and thickened supraorbital andnuchal ridges, exaggerated wrinkles with thickened facialfeatures, a wide and fleshy nose, full and plump lips and alarge and protuberant lower jaw. Such a patient withacromegaly may be hirsute with thickened and greasyskin.

Alternatively, none of these features may be gross orexaggerated: the subject may, for example, simply be awell-built, burly rugby player or a boxer with ruggedfeatures (1.9). A patient with Paget's disease (1.10) or

Table 1.2 Abnormal facies

Endocrine faciesAcromegalyCushing's syndromeGraves' diseaseHypothyroidismAddison's diseaseHypopituitarismPseudohypoparathyroidism

Neuromuscular faciesPtosisOcular palsiesProptosisPupillary abnormalitiesFacial muscular atrophy/weakness

Skin and mucosal lesionsDermatosesSystemic disorders

Miscellaneous groupCharacteristic facies not included in theother groups (e.g. mongolism)Enlargement or underdevelopment of anarea (e.g. Paget's disease, parotid swelling,maxillary hypoplasia, etc.)

1.8Fleshy, plump noseand lips

1 ATLAS OF CLINICAL DIAGNOSIS

hypothyroidism may be mistaken, at first sight, as havingacromegaly. Occasionally, there may be one or more of thecharacteristic features of acromegaly such as thickenedsupraorbital ridges, a fleshy nose and thickened skin, asseen in pachydermoperiostosis (1.11); in this case a falseimpression of acromegaly may be formed. A side-view ofa patient with acromegaly (1.12), against that of a patientof comparable age with pachydermoperiostosis (1.13), willshow that, in the former, the nose is not only bulkier but

its contours are also rounded and the contours of the noseand ear are less distinct than in the latter. As expected, thelower jaw looks somewhat protuberant in the acromegalicpatient. Similarly, hypothyroidism with an increased soft-tissue mass (1.14) may cause confusion and further clini-cal tests may be required to distinguish the two. Theinsulin-resistance syndrome with associated lipodystrophy(1.15, 1.16), with or without acanthosis nigricans, may beconfused with acromegaly.

1.9Large but distinctfeatures

1.10Prominent frontalbones

1.11Thickened skin withindistinct folds

1.12Large and roundedcontours of the noseand ear

1.13Pachydermoperiostosis:distinct contours ofnose and ear

THE FACE 1

In HIV-associated lipodystrophy syndrome there islipoatrophy over the face and proximal muscles, and exces-sive deposition of subcutaneous fat around the neck(buffalo hump), breast and abdomen (axial obesity). This

1.14Hypothyroidism:large nose andfacial folds. Note anoncommunicativeaffect

complication occurs in HIV patients treated with a pro-tease inhibitor but the exact pathogenesis is unknown.

Clinical confirmationTo make the diagnosis in a patient with the characteristicfeatures, and to exclude it in a patient with some mimick-ing signs, particular attention should be paid to the patient'shistory. They may have required progressively larger sizesof shoes, hats, gloves and rings. This is a condition with avariety of clinical features (1.17) that should be sought. Thepatient should be asked if there is an old photographavailable for comparison. In this patient (1.18), the currentpicture shows a striking contrast with the one taken at herwedding. In addition, a few chairside clinical tests will berequired to make the clinical diagnosis.

When asked, patients often volunteer that their relativesand close friends have noticed a major change in the size

1.15 and 1.16Lipodystrophy:prominent muscularcontours due todeficientsubcutaneous fat


of the patient's nose, which has gradually become bulkierand fleshy (1.19). In some patients this is the only charac-teristic feature of acromegaly on the face (1.20). The lowerjaw gradually increases in size and becomes large, bulkyand overgrown, producing prognathism (1.21). The changeis so striking and arresting that the clinical diagnosis ofacromegaly is hardly in doubt (1.22).

Macroglossia is an accessible manifestation of vis-ceromegaly in this disease. It can be demonstrated byasking patients to protrude their tongue out as far aspossible. The acromegalic tongue (1.23) is thick and wide

and has lost its normal triangular shape (1.24). It fills nearlythe whole of the mouth and there is only a rim, or some-times no space at all, between the tongue and the cuttingline of the upper teeth (1.23). When viewed in profile, sucha tongue (1.25) looks thicker and bulkier (1.26); it alsoreaches far further down towards the chin, which itself islonger than normal. The spaces between the teeth are alsoincreased. Although this appearance may also be seen inlipodystrophy (1.27), and sometimes in normal subjects, asteady increase of the spaces between the teeth is charac-teristic of acromegaly.

1.17Clinical features ofacromegaly

1.18Before and afteracromegaly

THE FACE 1

1.19Large nose and thicksupraorbital ridges

1.20Disproportionatelylarge nose

1.21Overgrown lowerjaw

1.22Large, fleshy lipswith prognathism

1.23Large, squaretongue

1.24Normal, triangulartongue

1.25Thickened, bulkytongue

1.26Normal tongue

1.27Lipodystrophy


Malocclusion of the teeth is by far the most reliable signand this can be demonstrated by asking patients to clenchtheir teeth. In an acromegalic patient, the lower teeth over-bite the upper teeth owing to the prognathism of the lowerjaw (1.28, 1.29). A comparison between 1.27 and 1.28 willdemonstrate this.

Both the hands (1.30) and feet (1.31) are square, wideand enlarged. The massive and spade-like hands and theincreased skin thickness are characteristic clinical signs ofacromegaly. All of these features can be assessed conve-

niently by inspection; in addition, a skinfold can be raisedon the back of the hand and then compared with that froma normal subject of comparable age (1.32,1.33).

Visual field defects occur whenever the associatedpituitary tumour extends outside the pituitary fossa andcompresses the optic chiasma. The most commonlyencountered visual field defects are a bitemporal upperquadrantanopia or a bitemporal hemianopia. These defectscan be demonstrated by the confrontation method at thechairside (1.34,1.35).

1.28Overbiting lowerteeth

1.29Prognathism

1.30Normal andacromegalic hands

1.31Large, square feet

1.32Acromegalic skinfold

1.33Normal skinfold

THE FACE 1

The definitive diagnosis of acromegaly can be made bydemonstrating an elevated serum growth hormone levelthat is not suppressed by the rising plasma glucose duringa glucose tolerance test. Single estimations of the hormoneare unreliable since growth hormone secretion is pulsatilein short bursts.

Cushing's syndromeCushing's syndrome is easy to suspect but can be difficultto diagnose, since the visible clinical signs of obesity, hir-sutism, plethora, easy bruising and acne are all also verycommon in the general population. Most patients referredto endocrinologists with these features have simpleobesity. A careful look at some of the principal featureswill enable the clinician to identify those patients who aremost likely to have Cushing's syndrome.

In a fully developed case, the most striking facial fea-tures are rounding of the face (moon face), plethora withtelangiectasis, hirsutism, loss of scalp hair, acne and pig-mentation (1.36-1.38). Facial rounding and plethora areusually present, even in milder cases where the diseasehas not yet developed fully (1.39). These features are par-ticularly striking in younger subjects (1.40). As in mostendocrine disorders, examination of an earlier photographcan be useful. In this lady's current photograph (1.41, left)there is a marked plethora and facial rounding comparedwith that in the photograph taken 3 years earlier (1.41,right). Increased fat deposition occurs in all the likelyfat depots, from the face to the buttocks. The obesity isaxial (like a lemon on matchsticks) owing to excessive fatdeposition in the supraclavicular fossae, over the back ofthe neck (buffalo hump], the breasts, abdominal walland the buttocks, and from the relative wasting of the limbmuscles.

1.34Testing peripheralvisual fields

1.35Testing righttemporal visual field

1.36Facial plethora

1.37A rounded, moonface and plethora

1.38Moon face andplethora


10

1.39Facial rounding andplethora

1.40Moon face -Cushing's syndrome

1.41After and beforeCushing's syndrome

1.42Clinical features ofCushing's syndrome

Acne, hirsutism

Supraclavicular pads

Bruising

Renal calculi

Striae

PolyuriaNocturiaAmenorrhoea

Leg ulceration

Loss of scalp hair

Facial plethora

Moon face

Pigmentation

Underlying asthmatreated with steroids

Spinal osteoporosis

Hypertension

Pigmentationof scars

Thin skin

Proximal muscle/ wasting and weakness

Venous thrombosis

Oedema

1.42

THE FACE 111

Clinical confirmationThe initial impression can be changed into a firm clinicaldiagnosis by seeking the characteristic clinical features(1.42). Moderate obesity presents a major problem, notonly because it shares some of the characteristics withCushing's syndrome but also because most obese patientsinsist that they have some 'gland' trouble! In simpleobesity, fat deposition does not spare the arms and thighs(1.43) in comparison with Cushing's syndrome where thinextremities appear in striking contrast with truncal obesity(1.44). These characteristic differences between theappearances of the two conditions can be appreciated

better with the frontal views of these partially undressedpatients (1.45,1.46). Both views provide an opportunity tolook for some additional features, such as the characteris-tic purple striae in Cushing's syndrome, caused by thestretching of the thin, protein-depleted skin over rapidlyfattening areas. Apart from the abdomen (1.44, 1.46),purple striae are also seen over the buttocks (1.47) and thethighs (see also 11.38, 11.39). Hirsutism can be a markedfeature in some patients (1.48).

Fat deposition over the supraclavicular areas raisesbanana-shaped folds, which look prominent in both thefrontal (1.49) and the lateral views (1.50). Unlike simpleobesity, fat deposition is excessive over the lower

1.43Obesity

1.44Axial obesity, thinextremities andstriae

1.45Simple obesity

1.46Cushing's syndromewith truncal obesityand striae

1.47Purple striae

1.48Hirsutism with facialplethora


12

cervical vertebrae, giving the back a characteristic buffalohump appearance (1.51). This is also seen in thepseudoCushing's syndrome of alcoholism (1.52). Thisgeographical predilection of fat deposition is characteris-tic of Cushing's syndrome (also occurs in HIV-associatedlipodystrophy syndrome, see p. 5) and is seen even inyounger subjects (1.53).

Two chairside tests are of particular importance andshould always be performed to complete the clinical assess-ment. First, the skin of patients with Cushing's syndrome ispaper-thin and transparent so that the underlying capil-laries and veins look prominent, particularly in the antecu-bital fossa (1.54).This excessive thinning of the skin can bedemonstrated readily by compressing the antecubital fossa

1.49The adipose'necklace' ofCushing's syndrome

1.50Supraclavicularadipose deposits

1.51Cushing's syndrome

1.52PseudoCushing'ssyndrome

1.53latrogenic Cushing'ssyndrome

1.54Transparent and thinskin with visibleunderlying veins

1.55Paper-thin skin folds

THE FACE 113

between the thumb and the middle finger, thereby raisingmultiple thin and transparent skin folds (1.55). Similarly, itcan also be assessed by raising a skin fold on the back ofthe patient's hand and comparing it (1.56) with that of anormal hand (1.57). Second, proximal muscular weaknesscommonly associated with Cushing's syndrome (caused bymuscle catabolism and compounded by hypokalaemia) canbe demonstrated by asking the patient to stand up from asquatting position (1.58). Most patients with Cushing's syn-drome are unable to do this without touching the floor(1.59), their thighs (1.60) or any other prop.

Excessive bruising and ecchymoses are usually seen onthe back of the hands (1.61), shins and invariably on vene-section sites (1.62).

The appearances of the various forms of Cushing's syn-drome do not differ markedly from one another. A probinghistory will be required to diagnose the pseudoCushing'ssyndrome caused by alcoholism (1.63).

The distinctive facial appearances of Cushing's syndrome(1.64) usually revert to normal after treatment (1.65).

The diagnosis of Cushing's disease (spontaneous hyper-cortisolism from excessive pituitary adrenocorticotrophichormone (ACTH) production) is confirmed by demon-strating hypercortisolism, loss of circadian rhythm of cor-tisol secretion, raised 24 h urinary free cortisol level, witha modest elevation of ACTH concentration. Dynamic testsare required to establish the aetiological diagnosis ofCushing's syndrome.

1.56Thin skinfold ofCushing's syndrome

1.57Normal skinfold

1.58Attempting to standup

1.59 and 1.60Needing a prop tostand up

1.61Spontaneousbruising andpurpura

1.62Postvenesectionbruising


14

Groves7 diseaseGraves' disease is essentially recognizable by its eye signs,which direct one's attention to the other accompanyingfeatures (1.66). Exophthalmos (proptosis), periorbitalswelling, upper lid retraction, chemosis and ophthalmo-pathy occur in various combinations. Proptosis, or theforward, axial protrusion of the globe, results from enlarge-

ment of the muscles and fat within the orbit. It is easy torecognize, particularly when associated with other signssuch as periorbital oedema (1.67). Both these features arebetter appreciated if the eye is inspected from the side(1.68). Compared with the normal eye and the valleysabove and below it (1.69), the globe in exophthalmos looksprotuberant with puffed-up and discoloured skin aroundit.

1.63Facial plethora inpseudoCushing'ssyndrome

1.64Cushing's syndrome:before treatment

1.65Cushing's syndrome:after treatment

1.66Clinical features ofGraves' disease

1.67Proptosis withperiorbital oedema

1.68Axial protrusion ofthe eyeball

1.69Normal orbit

THE FACE 115

Upper lid retraction is a common eye sign in Graves'disease; it can be recognized by a rim of sclera, visiblebetween the lower margin of the upper lid and the corneain the relaxed position of forward gaze (1.70). Sometimesthe lid retraction is so marked that the eyelashes are buriedunder the retracted lid (1.71). Chemosis (congestion of theconjunctivae) frequently occurs in Graves' ophthalmopa-thy and often the medial caruncle is red and enlarged(1.72).

Of the other clinical features, thyroid acropachy (1.73)and pretibial myxoedema (1.74) are visually impressive.The former resembles clubbing of the fingers (1.75) but,unlike clubbing, the swelling is found more often aroundand over the root of the nail and much less under the nailbed (1.76). Onycholysis is sometimes seen when the nailsseparate from the nail beds and become thin and dis-coloured (1.77). It also occurs in a variety of dermatologi-cal disorders, particularly in psoriasis (see The Nails).

1.70Upper lid retraction

1.71Lid retraction withburied eyelashes

1.72Enlarged medialcaruncle andcongestion

1.73Acropachy

1.74Pretibial myxoedema

1.75Clubbing of thefingers

1.76Thyroid acropachy:convex nails withperiungal swelling

1.77Onycholysis


16

Pretibial myxoedema is a localized violaceous indurationthat usually occurs on the shins and, in many cases, appearsseveral months after a patient has been rendered euthy-roid with surgery or radioiodine.

Clinical confirmationA careful history is sufficient to establish the clinicaldiagnosis in most cases with thyrotoxic fades. Loss ofweight despite a good appetite (with an increased dietaryintake], heat intolerance, irritability, restlessness, palpita-tions, diarrhoea and undue fatiguability are among theusual presenting features. A few chairside Tests can be usedto confirm the clinical impression. The patient is usuallylightly clad, thin, nervous and fidgety. The hands arewarm and moist (cold and sweaty in simple anxiety) and,when outstretched, exhibit a fine rhythmic tremor.The resting pulse rate is rapid and there may be atrialfibrillation.

Sometimes the thyroid gland is only slightly enlargedand the patient may have to be given a sip of water toswallow, in order to fully reveal the enlargement of anupwardly moving gland. The bell of the stethoscope shouldbe placed lightly on the gland to listen for a bruit, which isa reliable sign of increased vascularity and hyperactivity.

Lid retraction can be elicited by asking the patient tofollow the examiner's index finger as it moves slowly

downwards. The upper lids lag behind the downwardlymoving eyeballs (1.78, 1.79). Exophthalmic ophthalmopa-thy can be demonstrated by revealing the inability of thepatient to converge his eyes (1.80) and to look up andoutwards (1.81).

Laboratory diagnosis can be made by demonstratingan increased level of free serum T4 or T3, or both, and alow thyroid-stimulating hormone (TSH) level by a sen-sitive assay. In difficult cases, the thyrotrophin-releasinghormone (TRH) provocative test can be undertaken toestablish the diagnosis.

HypothyroidismThe typical hypothyroid facies showing all the characteris-tic features (1.82) is easy to recognize but is seldomencountered nowadays. The patient is usually excessivelyclothed, mentally and physically slow, obese with nonpit-ting oedema of the legs and face, and has some of the char-acteristic facial features. There is often some degree ofperiorbital oedema, thickening of the nose and lips, malarflush with a yellowish tinge, sparse hair, and dull eyes withnoncommunicative looks (1.83). The example of advancedmyxoedema shown in 1.83 is seldom seen today. Moreoften patients have less profoundly affected facies (1.84)and the diagnosis is made by a combination of a carefulhistory, physical examination and laboratory investigation.

1.78Marked lid retraction

1.79Lid lag

1.80Unable to converge

1.81The tethered left eyefails to move up andoutwards

THE FACE 117

Clinical confirmationThe skin is cold, dry, pale, thick and inelastic, with the hairbeing coarse and sparse (1.85). There is sometimes aprominent malar flush when other features of myxoedemaare less striking (1.84,1.86). The patients are uninterestedin their surroundings and slow to respond to enquiries. Thepatient's voice is thick and croaky, the pulse is slow and

the relaxation of the tendon jerks is slow, as demonstratedeasily on the ankle jerk. In an office situation this can betested by asking the patient to kneel on a chair (1.87). Thediagnosis should always be confirmed by laboratory inves-tigations by demonstrating a low serum free T4 and elevatedTSH levels. A few cases are detected by laboratory methodsalone, usually by routine thyroid function tests requestedfor patients attending a lipid or geriatric outpatient clinic.

1.82Clinical features of

hypothyroidism

1.83Myxoedema

1.84Hypothyroidism:

malar flush

1.85Hypothyroidism: hair

loss

1.86Hypothyroidism:

malar flush and

noncommunicative

affect

1.87Testing ankle jerk on

a kneeling leg


18

Addison's diseaseUnlike the endocrine disorders discussed so far, Addison'sdisease and hypopituitarism do not produce strikinglydiagnosable facies. The diagnosis is suspected by the pres-ence of other associated features (1.88) along with thefacial appearance. For example, pigmentation, the hallmarkof Addison's disease, may be racial, constitutional or theresult of some other disease (Table 1.3). Progressive dark-ening is more significant than long-standing pigmentation.Clinical diagnosis can be established with a competenthistory and physical examination.

Clinical confirmationAlthough the symptoms of tiredness, dizziness, anorexia,weight loss, cramps, depression, nausea and vomiting mayseem vague and nonspecific, they can be very meaningfulif considered together with the thin, apathetic and pig-mented patient (1.89). Apart from the face, which looksdark (1.90), marked pigmentation may also be foundon the exposed areas of the skin such as the fingers(1.91), palmar creases (1.92), elbows (1.93) and around or

Table 1.3 Some causes of hyperpigmentation

LocalizedFrecklesLentigines - Peutz-Jeghers syndromeChloasmaCafe-au-lait spots - neurofibromatosisPostinflammatory phenomenon

GeneralizedExcessive melanocyte-stimulating hormone (MSH) or

adrenocorticotrophic hormone (ACTH)Addison's diseaseNelson's syndrome (bilateral adrenalectomy for Cushing's

syndrome)Ectopic ACTHMalignancyChronic infections (especially tuberculosis)HyperthyroidismSystemic sclerosisPrimary biliary cirrhosisHaemochromatosisChronic arsenic poisoning

1.88Clinical features ofAddison's disease

1.89Loss of weight andpigmentation

1.90Pigmentation

THE FACE I •19

in scars (1.94). The inside of the mouth should be exam-ined for the presence of pigmentation on the gums andbuccal mucosa (1.95). There is often a loss of pubic hair infemales.

Laboratory diagnosis is made by demonstratingimpaired production of adrenal cortical hormones, princi-pally cortisol. Plasma cortisol levels may be normal underresting conditions but fail to rise after the administrationof ACTH. A short synacthen test can be performed as ascreening procedure on an ambulant patient.

HypopituitarismMany endocrinologists would admit that although thefacies of hypopituitarism have some distinct features, theseare often only appreciated if taken in conjunction with theother clinical findings (1.96), or if the presence of an aetio-logical factor is suspected. The changes are often subtleand their emergence into the eventual picture depends onthe degree of pituitary failure, the pattern of individualhormone deficiencies and the underlying pathology.

1.91Addison's disease:hyperpigmentationof the fingers

1.92Dark palmar creases

1.93Pigmented skincreases

1.94Pigmentation in and

around a scar

1.95Pigmentation of thebuccal mucosa

1.96Clinical features ofhypopituitarism


20

Clinical confirmationThe face has an ageing, pale, waxy appearance (1.97), andfine wrinkles can be seen at the angles of the mouth andeyes (gonadotrophin failure) (1.98). Thyrotrophin defi-ciency adds its own features including dryness of the skin,dull and lustreless eyes, neutral looks and sparse hair

(1.99), but these are seldom as gross as in primary thyroidfailure.

The pallor of the skin (1.100,1.101) is out of proportionto the degree of the anaemia (haemoglobin usually about10-11 g/dl), contrasting with the pinkish conjunctiva. Thenutritional state of the patient is good but there is gener-alized pallor, loss of hair and gonadal atrophy (1.102).

1.97Pale, waxycomplexion

1.98Periorbital angularwrinkling

1.99Pituitaryhypothyroidism

1.100Pale skin

1.101Pinkish conjunctiva,pale skin

1.102Hypopituitarism withloss of hair, gonadalatrophy

THE FACE 121

In men, hair loss involves the chest (1.103) and the axillae(1.104) and there is loss of pubic hair in both sexes. A closerlook shows empty follicle pits unassociated with any der-matological disorder (1.105).

Laboratory diagnosis is essential since the patient willbe committed to replacement therapy for life. The diag-nostic work-up includes the measurement of end-organand pituitary hormones, their inadequate response toinsulin-induced hypoglycaemia and neuroanatomicalstudies. Computerized tomography (CT) and magneticresonance imaging (MRI) scans are often necessary todefine the underlying disorder.

Neuromuscular faciesAlthough facial expressions originate in the cerebralcortex, their shape, substance and communicability dependon the content and overall integrity of the anatomicalstructures of the face. The eyes are by far the most impor-tant among these structures and give life, meaning and

direction to any expression. All clinical assessments startat the eyes of the patient even by those clinicians whoprofess to begin their examination by looking at a patient'shands! Physicians maintain eye contact with theirpatients, not only to get behind their verbal and facialexpressions but also to look for any anatomical and func-tional abnormalities. Any abnormality in one part oftenaffects, and cannot be entirely separated from, the otherstructures of the face.

7/ie eyes

PtosisOf the various abnormalities in the eyes and eyelids, ptosisis the one that can be detected by a single look and froma distance. It is also the one that is often missed by theunwary clinician. The various causes of ptosis are given inTable 1.4 and it is obvious that this easily detectable signcan often direct one's attention to a serious disorder of thecentral nervous system. Ptosis may be mild and unilateral

1.103Hair loss

1.104Axillary hair loss

1.105Empty follicle pits


22

Table 1.4 Causes of ptosis

Type CauseCongenital Levator muscle/oculomotor nerve

maldevelopment may be unilateral orbilateral

Local disease Dehiscence of levator aponeurosis,inflammatory (e.g. chalazion, stye),infiltrative (e.g. amyloidosis, lymphoma,etc.)

Myopathic Myasthenia, botulism, myotonic dystrophy,chronic progressive externalophthalmoplegia

Neuropathic Horner's syndrome, oculomotor paresis,tabes dorsalis, Guillain-Barre syndrome,mid-brain lesion, facial paresis, frontallobe lesions

when a part of the eyeball can be seen (1.106), or it maybe complete, which is usually caused by a third cranialnerve palsy (1.107). The diagnosis can be made by carry-ing out a few clinical tests. Bilateral ptosis is almost alwaysincomplete and may affect one eye more than the other;indeed, there may not be any other additional neuro-muscular signs in the face (1.108). In the absence of anymuscular disorder, the frontalis muscle is usually wrinkledover the forehead, in an effort to compensate for thedroopy eyelids (1.109).

Differential diagnosis of ptosisThe clinical diagnosis of ptosis and an understanding of itsunderlying pathology both depend on answering severalquestions. First it must be established whether the ptosis isreal by asking the subject to look upwards without tiltingthe head, since some normal subjects, particularly of Asianorigin, have droopy upper eyelids that they can lift when

1.106Partial and unequalptosis

1.107Complete right ptosis

1.108Partial ptosis

1.109Ptosis withoveraction offrontalis

THE FACE 123

so required. This procedure also provides an opportunityto distinguish the ptosis of a sympathetic paresis (Horner'ssyndrome) from that of a third cranial nerve palsy, since inpatients with a smooth muscle paresis the upper lidlifts when the patient tries to stare or look upwards. Thispatient with a right Horner's syndrome (1.110) can lift hisright eyelid up to the limbus when he tries to stare (1.111),whereas the patient with a right third cranial nerve palsyis unable to do so (1.112). Note the smaller pupil on theright in 1.111.

This method may seem too difficult for a proper inter-pretation by those not trained in the subtleties of neurol-

ogy. An easier method is to look at the eyes and answerthe following three questions:

1. Is the pupil on the side of the ptosis small? If soHorner's syndrome (1.111,1.113) is suspected.

2. Is the pupil of normal size (1.112) or large (1.114)? Iflarge, the probable diagnosis is third cranial nervepalsy.

3. Is there an associated ocular palsy? If so third cranialnerve palsy or m\asthenia gravis is suspected.

To answer these questions satisfactorily the eye must beexamined carefully for any abnormalities of the lids or

1.110Right Horner'ssyndrome

1.111Able to stare! Notesmaller right pupil

1.112Right third cranialnerve palsy: unableto stare!

1.113Left Horner'ssyndrome

1.114Right third cranialnerve palsy:complete ptosis andlarge pupil

1.115Myotonic dystrophy:ptosis withunwrinkled face


24

globe and for any ocular palsies (see Table 1.1). Finally, oneneeds to consider whether the ptosis is a part of a neuro-muscular disorder such as myasthenia gravis, myotoniadystrophica and mitochondria! myopathy.

Patients with a myotonic dystrophy tend to have a long,lean, expressionless face and they can neither lift theirupper eyelids nor create any wrinkles on their forehead(1.115). Bilateral ptosis with overaction of the frontalis maybe congenital and be present since birth, as in this patient(1.116), or acquired as in tabes dorsalis (1.117). The ptosisof myasthenia gravis tends to get worse as the day pro-gresses or if the patient is asked to open and close the eyes

repeatedly; in this situation it improves after an intra-venous injection of edrophonium (1.118,1.119).

Ocular palsiesComplete or partial ptosis associated with a dilated pupilon the affected side is always the result of a third cranialnerve palsy (1.120). Deviation or strabismus of the eyeballcan also be caused by a fourth or sixth cranial nerve palsyas in this patient (1.121), whose right eye is turned inwardsbecause of the weakness of the right lateral rectus muscle,thereby permitting unopposed adduction by the medial

1.116Congenital ptosis

1.117Acquired ptosis withoveraction offrontalis

1.118Before and 30 safter intravenousedrophonium

1.119Before and 1 minafter intravenousedrophonium

1.120Right third cranialnerve palsy

1.121Right sixth cranialnerve palsy

THE FACE 125

rectus. Apart from a strabismus, one should ascertainwhether the patient experiences diplopia and whetherthere is any proptosis. The former confirms that there is anocular palsy and its direction is suggestive of the particu-lar cranial nerve involved. Proptosis suggests the presenceof a local pathology.

If the fifth cranial nerve is also involved as part ofmononeuritis multiplex, then the ptosis may be associatedwith inflammation of the eyelids and loss of the softportion of the nose (1.122), due to sensory deprivationand consequent failure of protection from recurrenttrauma.

Ocular myopathy begins with a progressive bilateralptosis (1.123). There is often a myopathy of other externalocular muscles and sometimes there is evidence of otherconcomitant lesions in the central nervous system (e.g.paraplegia, retinitis pigmentosa, ataxia). Mitochondrialabnormalities have been reported both in ocular andskeletal muscles.

Differential diagnosis of ocular palsiesThe diagnosis of a third, fourth, or sixth cranial nervepalsy can be made by testing the eye movements innine directions - straight in front, to the right, to theleft, up, down, to the right and up, to the left and up, downto the right and down to the left. Apart from the fullmovement of the eyeball in each direction, the patientshould be asked to report the appearance of any diplopia,which suggests weakness of the muscle that acts in thatdirection. Figures 1.124-1.129 were obtained from apatient with a right cavernous sinus thrombosis affect-

ing the right third, fourth and sixth cranial nerves. Thesepictures illustrate the usefulness of testing the eyemovements.

Right third cranial nerve palsy is suggested by a com-plete ptosis (1.130), dilatation of the pupil (1.124) and theinability to elevate (1.128) and adduct the eyeball (1.126);this is because the third cranial nerve supplies the levatorof the upper lid, the constrictor of the pupil, all the extrin-sic muscles of the eye except the lateral rectus (the sixthcranial nerve) and the superior oblique muscle (the fourthcranial nerve). The patient is unable to look to the rightbecause of the right lateral rectus (sixth cranial nerve)palsy (1.125), or downwards and inwards (1.129) becauseof right third and fourth cranial nerve palsy. Often it is dif-ficult to test the integrity of the fourth cranial nerve (down-ward gaze of the adducted eyeball) when there is acoexistent third cranial nerve palsy, as this renders adduc-tion of the eyeball incomplete or altogether impossible.However, if one looks carefully at the affected eyeball, itwill be seen to intort when a patient with right third cranialnerve palsy but with an intact fourth cranial nerve attemptsto look down and to the left.

Figure 1.131 shows an example of an internuclear oph-thalmoplegia; the top and the bottom panels show the leftlateral gaze, which reveals paresis of the right internalrectus. When the patient tries to look in the opposite direc-tion (to the right, see middle panel) it is the left internalrectus that now fails to follow. The failure of adduction isa pathognomonic sign of the internuclear ophthalmople-gia caused by a lesion in the medial longitudinal fascicu-lus. This patient had multiple sclerosis.

1.122Mononeuritismultiplex: bilateralthird, fourth, fifthand sixth cranialnerve palsy

1.123Bilateral ptosis


26

1.124Looking straight infront

1.125Looking to the right

1.126Looking to the left

1.127Looking down

1.128Looking up

1.129Looking down andinwards

1.130Complete ptosis

1.131Internuclearophthalmoplegia:failure of adduction

THE FACE 127

ProptosisProptosis associated with an ocular palsy may point to acavernous sinus thrombosis with the involvement of oneor more of the ocular nerves as they traverse the sinus.Proptosis of a moderately severe degree can confuse thediagnosis since a protruding eyeball does not move freelyin various directions and falsely suggests an ocularpalsy.

A unilateral proptosis of any degree is easy to recognizeso long as one remembers to compare it with the normal

side (1.132). Many clinical teachers advocate that patientswith a suspected proptosis should be observed from above.This procedure, when performed properly, can be success-ful in showing the bulge of the proptosed eye above thelevel of the normal eye, both in gross proptosis (1.133) andwhen there is only a moderate degree of proptosis (1.134,1.135). However, a careful look at the protuberant eyeball,the periorbital furrows that are filled out, and at the lateralview of the eyeball compared with the normal side, is allthat one needs to distinguish a protruding eyeball from anormal one (1.136,1.137).

1.132Left proptosis

1.133Viewed from above

1.134Right proptosis

1.135Viewed from above

1.136Proptosed eye

1.137Normal eye


28

This procedure can be successful even when there isonly a modest degree of proptosis, which can be suspectedfirst by looking at a patient's face (1.138). Comparing theeyes with each other and by looking at each eye carefully,the superior periorbital sulcus clearly seen above the righteye (1.139) is obscured by the bulging eyeball on the leftside (1.140). The lower eyelid also looks a little fuller onthe left side and the left eye does not look so comfortablyhoused in the orbit, unlike the right eye with room tospare.

The examination of proptosis should be completedby determining its direction, whether it is pulsatile andreducible (by gently pressing on the eyeball) as it was in

this patient with a carotid-cavernous fistula (1.138), orwhether it is fixed and irreducible as in Figure 1.132.

Pupillary abnormalitiesPupillary abnormalities may be bilateral, as in neu-rosyphilis, or unilateral, as in the Holmes-Adie syndrome(myotonic pupil). A clinician's task is not only to spot theasymmetry but also to identify the abnormal side. Oftenthere are associated abnormalities in the eyeball or eyelidssuch as a partial ptosis in Horner's syndrome (1.141)or complete ptosis in a third cranial nerve palsy (1.142).

1.138Left proptosis

1.139Normal orbitalcontours

1.140Obscured superiororbital furrow

1.141Left Horner'ssyndrome

1.142Left third cranialnerve palsy

THE FACE 129

The absence of any ocular abnormalities associated with adilated pupil (1.143) suggests a diagnosis of the myotonicpupil, a condition usually seen in young women and oftenassociated with absent ankle and knee jerks. Such pupilsare always regular but react poorly to light and on accom-modation. The Argyll Robertson pupils are small (1.144),often irregular and unequal (although these changes maybe very subtle), and their characteristic feature is that theyare either non-reactive to light or react poorly but respondbetter on accommodation. Their reaction to light andaccommodation is sometimes difficult to determine be-cause of their small size but, on repeated testing, somereaction on accommodation can be detected in the pupilsthat are non-reactive even to intense light.

Facial musclesFacial muscles make a major contribution to the contourand shape of the face. Any weakness or wasting of one ormore muscles is betrayed by a resulting asymmetry anddistortion of the facial features. Atrophy of one side of theface - facial hemiatrophy - may occur in otherwise healthysubjects (1.145). This is a rare disorder and is often her-alded by the appearance of a dimple, which progressivelyenlarges and, within a few years, invovles all the structureson one side of the face. The abnormal side (1.146) with itsinfrazygomatic pit, thinned nose and hollow periorbitalspaces shows a striking contrast to the normal side (1.147),which looks full and fleshy.

1.143Holmes-Adiesyndrome

1.144Argyll Robertsonpupils

1.145Facial hemiatrophy

1.146Hollow side

1.147Normal side


30

Myopathic facies are characteristically unwrinkled, ex-pressionless and sad, with lax and pouting lips, as seen inthis patient with myotonia dystrophica (1.148). This long,lean and expressionless face with gaping lips can bedetected even in young subjects with the condition (1.149).An expressionless face may also be seen in associationwith the facioscapulohumeral muscular dystrophy (1.150).There is characteristic pouting of the lips, which, togetherwith poverty of expression, is seen even in those patientsin whom muscular wasting of the face is not very marked

and in whom there is no ptosis (1.151). This form has anautosomal dominant inheritance but there is substantialvariation in the severity in affected members of the samefamily. In contrast, profound muscular wasting of the entireface, as in this patient with bulbospinal muscular atrophy(1.152), gives the face a characteristic appearance withwide, noncommunicative eyes, lax and open lips, an unlinedface and a sagging lower jaw. Facial features are much lessmarked in the early stages of myasthenia gravis whenptosis may be the only abnormality (1.153).

1.148Myopathic facies:bilateral ptosis witha smooth, unlinedface

1.149Long, lean face withpouting lips

1.150Facial muscularatrophy: unwrinkled,expressionless face

1.151Mild facial muscularwasting

1.152Severe facialmuscular wasting:wide open eyes anda lax, partially openmouth

1.153Ptosis in myastheniagravis

1.154Right Bell's palsy:wide open right eye,smooth right face

THE FACE 131

Facial nerve palsy is by far the commonest abnormalneuromuscular facies encountered in clinical practice. Inits complete form, as in Bell's palsy (1.154), there is paraly-sis of the upper and lower parts of the face, the wrinkleson the affected side of the forehead and the nasolabial foldare smoothed out, both the eyelids look lax and somewhatretracted and the corner of the mouth appears to droop.

In the upper motor neurone muscular weakness (e.g.lesion in the internal capsule), the paralysis is less wellmarked and spares the upper part of the face if the lesion

is supranuclear since there is bilateral innervation of theforehead from the corticobulbar fibres. This fact tends tobe overemphasized by clinical teachers since, despite thebilateral innervation, there is often some widening of theeyebrows on the affected side. Emotional and involuntarymovements such as spontaneous smiling may be much lessaffected. Voluntary effort to force a smile and retract theangles of the mouth reveals the weakness on the right sidein this patient with weakness of the facial muscles ofcentral origin (1.155).

1.155Right hemiparesis

1.156Myotoniadystrophica

1.157Facioscapulohumeralmuscular atrophy

1.158Attenuated facialand neck muscles


32

Differential diagnosisBoth a family and personal past history of muscular weak-ness, details of the onset and of any associated symp-toms, and a neurological examination all help to establishthe diagnosis. Facioscapulohumeral (Landouzy andDejerine) type and myotonia dystrophica are bothinherited familial disorders, transmitted through anautosomal dominant gene. Other members of the familymay be affected, although in a remarkably varyingdegree. Myotonia dystrophica occurs more commonlyin males and is often heralded by myotonia wherebyrelaxation of a muscle after use is slow and incomplete,embarrassingly noticeable during a handshake! Otherassociated features are testicular atrophy, cataract, pre-

mature senility and alopecia causing frontal baldness inboth sexes (1.156).

The facioscapulohumeral type occurs equally in bothsexes and affects the muscles of the face and shouldergirdles (1.157). Both the face and neck usually look thinand attenuated (1.158) and there is often profound wastingof the thoracic muscles with winging of the scapulae(1.159). This sign may be demonstrable even in patientswith minimal muscle wasting (1.160). The weakness isoften remarkably selective with bilateral prominence ofthe scapulae (1.159) and weakness of the pectoral muscles.The facial muscles are involved first and then the weaknessdescends to the scapular muscles and the muscles of theupper arms and anterior legs. Other muscles may be sparedaltogether or may be only minimally weak.

1.159Winging of thescapulae

1.160Winging with mildmuscular wasting

1.161 and1.162Improvement afterintravenousedrophonium

1.163 and1.164Myasthenia gravis:before and afterintravenousedrophonium

THE FACE 133

In a typical case, myasthenia gravis is easy to diagnoseby its characteristic abnormal fatiguability that affects adiverse range of motor functions such as talking, combing,chewing, shaving, typing, walking, etc. The patient is betterin the morning after a night's rest but the symptoms returnas the day progresses when the patient may have diplopia,the voice may be hoarse and even smiling may become aneffort. The edrophonium test can confirm the diagnosis andmay be very useful in difficult cases. A good response isindicated by a marked improvement in the ptosis and bythe restoration of free ocular movements in all directions(1.161-1.164). The improvement may be seen within a few

seconds and the patient may lose his or her ptosis andbe able to look upwards 30-60 s after the injection, asillustrated in the three sequential panels in 1.165.

This patient with a complete Bell's palsy is unable toclose her eye on the affected side (1.166), the eyeball rollsupwards on attempted closure (Bell's phenomenon) andthe eyelids can be separated easily on the affected side(1.167). The patient with a partial palsy or the patientrecovering from a complete palsy can close the eye butcannot bury the eyelashes (1.168). If asked to smile, theface contracts to the normal side (1.169) and the patient isunable to puff out her cheek on the affected side (1.170).

1.165Myasthenia gravis:response tointravenousedrophonium

1.166Bell's palsy: unableto close the eye

1.167Bell's phenomenon

1.168Unable to bury theeyelashes

1.169Contraction towardsthe normal side

1.170Unable to puff outthe affected cheek


34

The external auditory meatus should be examined for thepresence of a herpetic eruption (1.171), which is associatedwith herpes zoster of the geniculate ganglion in patientswith the Ramsay Hunt syndrome. Taste is lost over theanterior two-thirds of the tongue.

Skin and mucosal lesionsDermatology is a pictorial subject and skin lesions can berecognized by a careful inspection of the lesion, the skinaround it, its distribution and the uniqueness of its pattern,followed by examination of the other expected systemicand cutaneous abnormalities. A generalist may usefullybegin by deciding whether the lesion represents one ofthe dermatoses such as psoriasis, eczema, acne, etc., or is amanifestation of a systemic disorder, such as an endocrine,neoplastic, gastrointestinal or a metabolic disease.

DermatosesThese comprise several conditions that affect the scalp andthe skin of the face.

Common skin conditionsPsoriasis of the scalp usually results in reddish lesions onthe hairline (1.172) or plaques with scaling, which oftenoccur either behind or in front of the ear (1.173). The skinbetween the plaques is normal. Sometimes there is profusescaling along the hairline (1.174) and the condition is indis-tinguishable from seborrhoeic dermatitis. This form of pso-riasis is often difficult to treat and can result in loss of hair.

The face is not usually involved in psoriasis except in theguttate variety in which 'salmon pink' erythematouspapules, 2mm-lcm in diameter may occur on the face(1.175) and elsewhere on the body (1.176). Guttate (from

1.171Resolving herpeticrash

1.172Predilection for thehairline

1.173Psoriatic plaque withscaling

1.174Psoriasis: excessivescaling. Note theerythematousplaques with scaling

1.175Guttate psoriasis:discrete,erythematouspapules and plaques

1.176Psoriasis: papuleswith scaling

THE FACE 135

the Latin meaning 'spots that resemble drops') psoriasismay be chronic but more often appears as an acute exan-them with a shower of papules that develop rapidly inyoung adults, often following a streptococcal pharyngitis.This form of psoriasis should be distinguished from apsoriasiform drug eruption.

As the name suggests, contact dermatitis is an acute(chronic cases also occur) inflammation of the skin causedby contact with an external toxic or antigenic agent. Thelesions appear as ill-defined red patches with fine fissur-ing and nonumbilicated vesicles sometimes covered withcrusts. The usual offending agents are plants, washingpowders, hair dyes or make-up powder, as in this patient(1.177), and metals. In acute cases, the onset is rapid witherythema, oedema and exudative vesiculation. Pruritusand a burning sensation are the major presentingsymptoms.

Atopic eczematous dermatitis affects between 2 and20% of the population. It is probably even commoner assome patients learn to live with it without consulting theirdoctors. Histologically, eczema is characterized by alymphohistiocytic infiltration around the upper dermal ves-sels, acanthosis and spongiosis. Clinically, the important

features are itching, redness, scaling and papulovesicles.Atopic dermatitis is the commonest of its many variants.

In adults, atopic dermatitis is a chronic recurrent dis-order with exacerbations often related to personal psy-chosocial adversities. There may or may not be a history ofchildhood atopic dermatitis, asthma and hay fever; never-theless many patients have a positive family history of theatopic triad - dermatitis, asthma and allergic rhinitis. Serumlevels of IgE are elevated. In acute cases there is erythema,oedema, exudation and intense itching, with resultantexcoriations and erosions; there may also be clusters ofpapulovesicles (1.178). In chronic forms, there may bedryness, scaling and lichenification (thickening of the epi-dermis with deepening of the skin lines) (1.179), plaques,papulovesicles, excoriations, dry and wet crusts and cracks(1.180).

One of the serious complications associated with atopicdermatitis is the susceptibility to severe and generalizedherpes simplex type 1 infection (eczema herpeticum), andto Kaposi's varicelliform eruption after vaccination. Inpatients with atopic dermatitis, a few harmless-lookingherpetic vesicles on the lips may soon develop into ageneralized papulovesicular eczema herpeticum (1.181).

1.177Contact dermatitis: areddish-brownerythematousreaction withlichenification tomake-up powder

1.178Atopic dermatitis:papulovesicularlesions onerythematous skin

1.179Chronic atopicdermatitis:lichenification overerythematous skin

1.180Papulovesicular rashwith crusting

1.181Eczema herpeticum:scatteredpapulovesicularlesions


36

In acne rosacea there is widespread erythema on theface with red papules (1.182). The rash may also involvethe eyelids. These patients have hyperreactive facialvessels, with flushing in response to various stimuli such ashot tea, spicy foods and alcohol. Over a period of years thistransient and recurrent flushing produces persistenterythema and papules. In a well-developed case thereis usually a purplish-red hue to the face with macules,papules and telangiectasia (1.183). Although called acnerosacea, unlike acne there are neither comedones norseborrhoea (see 1.201,1.202).

Urticaria is an intensely itchy condition with swellingof the dermis that raises the epidermis into weals(1.184). Acute rashes are often IgE-dependent in patientswith an atopic background. In chronic cases the aetiologyis mostly unknown. There are special varieties of cold,solar and cholinergic urticaria induced by cold, sunshine

(action spectra 290-500 nm) and excessive sweating,respectively.

In angioneurotic oedema, the subcutaneous tissue ratherthan the dermis is swollen, usually affecting the lips,mouth, eyes (1.185) and genitalia. The name is misleadingsince the nerves and vessels are not involved. A rapidappearance of erythematous weals around the mouthshould be regarded as a medical emergency; in this situa-tion the patient should be monitored carefully for anysigns of respiratory obstruction. The causes are multi-factorial as in other urticarias. The hereditary variety isan autosomal dominant disorder and is characterized bylife-threatening laryngeal oedema and acute abdominalpains caused by oedema of the bowel wall. During theacute episodes, the facial features are grossly distorted witherythema and swelling (1.186) but there is usually noitching.

1.182Acne rosacea:erythema withpapules

1.183Maculopapular rashwith lichenification

1.184Urticaria:oedematous dermalweals of varyingsize

1.185Angioneuroticoedema

1.186Acute erythema andgeneralized oedema

THE FACE 137

As the name erythema multiforme implies, the cuta-neous reaction to circulating immune complexes (stimu-lated by infections, drugs, collagen diseases, etc.) is diverse,ranging from a maculopapular rash (1.187) to erythema-tous plaques (1.188), blisters and target lesions. The latterare diagnostic with a central, purplish area or a blister sur-rounded by a pale, oedematous zone, which in turn is sur-

rounded by a rim of erythema (1.189). These lesions maybe scattered all over the body (1.190 and 1.191). Themucous membranes of the eyes and mouth (1.188, 1.192)may also be affected; the condition is then referred to asthe Stevens-Johnson syndrome. Recurrent herpes sim-plex infection is a common cause of recurrent erythemamultiforme. Other provocating factors are bacterial infec-

1.187Erythemamultiforme:maculopapular rash

1.188Stevens-Johnsonsyndrome. Notelabial involvement

1.189Target lesion

1.190Scattered targetlesions

1.191Distribution oflesions in erythemamultiforme


38

tions and a variety of drugs. An association withMycoplasma pneumoniae in young adults has beenreported.

Basal cell carcinoma starts as a cluster of small noduleswith telangiectasia (1.193) and early ulceration. It occursmostly on exposed areas, commonly on the face orforehead as in the patient shown in Figure 1.194. It is thecommonest form of cutaneous malignancy, grows slowly(the lesion has often been present for over a year beforethe patient seeks advice) and causes locally destructivechanges, hence it is also called rodent ulcer.

InfectionsFolliculitis results when the hair follicles become infectedwith Staphylo coccus spp. On the face the infection mayspread by shaving (sycosis barbae) (1.195). The hallmarkof the lesion is the pustule confined to the ostium of thehair follicle (1.196). Papulopustules may coalesce to formindurated plaques.

Staphylococcal or streptococcal infection of the epidermiscauses thin-roofed vesicles or pustules which often becomecrusted because of scratching - a condition known asimpetigo contagiosa (1.197). This condition predominantly

1.192Stevens-Johnsonsyndrome

1.193Early basal cellcarcinoma:coalescing cluster ofreddish nodules

1.194Basal cellcarcinoma: commonsite

1.195Sycosis barbae

1.196Pustules arising inthe hair pits

1.197Impetigo contagiosa

THE FACE 139

occurs in children and young adults with poor hygiene andcrowded living conditions. The face and hands are the sitesmost commonly affected and the hallmark of impetigo ishoney-coloured crusting (1.198, 1.199). Lesions developrapidly and the infection can spread to those in close contactwith the patient. It may complicate pre-existing atopic der-matitis and in some susceptible children a bullous form ofimpetigo occurs (1.200), which can be difficult to treat.

Acne vulgaris is essentially a disease of adolescence andaffects the sebaceous glands, with an increase in sebumproduction and sebaceous duct blockage at puberty. Fol-

licular papules appear and these often develop into pus-tules (comedones) with whiteheads (closed) or blackheads(open) (1.201). There may also be nodules, nodulo-ulcerative lesions, cysts, scars and considerable seborrhoeaof the face and scalp (1.202).

In moderately severe cases, the entire face and foreheadis affected with papules and pustules (1.203). Mild to mod-erate lesions heal without scarring. In severe cases, ruptureof the follicles and inflammation lead to dermal damageleaving behind scarred pits (1.204). The condition deterio-rates premenstrually in some women, while pregnancy has

1.198Impetigo: multiplesmall abscesses

1.199Impetigo: honey-coloured crusting

1.200Bullous impetigo:thin-walled,intraepidermalbullae

1.201Acne: comedoneswith blackheads


40

a beneficial effect. Tropical acne (in young Caucasiansliving in the Far East), steroid acne (in patients withCushing's syndrome or those on corticosteroids), andchemical acne (in patients exposed to chlorinated hydro-carbons) are some of the variants.

Erysipelas is an acute, spreading streptococcal infectionof the dermal and subdermal tissues causing tender

erythematous induration with sharply defined, irregularborders (1.205). It may occur anywhere on the body but isoften seen on the face and legs. Immunocompromisedstates such as diabetes mellitus and some haematologicalmalignancies are the usual underlying risk factors buterysipelas may occur in otherwise healthy subjects. Theorganism gains entry through a minor abrasion (usually

1.202Acne withseborrhoea

1.203Acne: multiplepapulopustularlesions

1.204Acne: scarring

1.205Erysipelas: cellulitiswith well-definedborders

1.206Widespreaderysipelas affectingboth sides of theface

1.207Shiny, reddish-brown plaque withscarring

THE FACE 1 •41

visible on the surface) and infects the superficial lymphat-ics. Erysipelas is usually unilateral but, in severe cases, theinfection may spread to both sides of the face and the neck(1.206). Recurrent infection of the same site can lead tochronic lymphoedema.

Lupus vulgaris is a form of cutaneous tuberculosis andoften evolves as clusters of flat, brownish-red papules withulceration, scarring and disfigurement (1.207). In contrast,lupus pernio (cutaneous sarcoidosis) is a bluish-red granu-loma that neither gives an appearance of translucency norcauses scarring (1.208; see also 1.282 and 1.283) despitediffuse granulomatous involvement of the nose in somecases (1.209). Lupus vulgaris has become rare since theadvent of effective antituberculous treatment but cases are

still seen in northern Europe - more commonly in females,children and the elderly.

The infection commonly affects the face and neck butmay also occur on the arms (1.210) and legs. Initially, thelesions look like firm, translucent, brownish-red nodules(1.211). Ulcerative forms can present as serpiginous,punched-out ulcers surrounded by a brownish infiltrate,which is referred to as 'apple-jelly' (yellowish-brown)because of its appearance when a glass slide is pressed onthe surface (diascopy).

Tinea capitis is caused by ringworm fungal infection ofthe scalp. There is excessive scaling, fracture of the hairs('dots' on the surface) atrophy of the skin (1.212) and some-times pustule formation with adherent yellowish crusts.

1.208Lupus pernio

1.209Cutaneoussarcoidisis withgranulomatosisinfiltration of the skin

1.210Lupus vulgaris

1.211Lupus vulgaris:reddish nodules andplaques

1.212Tinea capitis:fractured hairs


42

These scaling papular lesions of tinea corporis occur inan annular formation, spreading peripherally and clearingcentrally (1.213). The outer border is red and irregularwith fine scaling. The lesions occur on the face, limbs andtrunk.

Herpes zoster is a common and easily recognizable con-dition caused by the varicella virus and characterized by alocalized vesicular or bullous eruption, usually limited to adermatome (often the ophthalmic branch of the trigemi-nal nerve; 1.214), which is innervated by the correspondingsensory ganglion. Along the distribution of a cutaneousnerve there are usually clusters of vesicles with erythema,oedema and scabs (1.215). Intense pain can be a verydistressing and chronic feature of this condition.

Blistering diseasesOf the common blistering disorders, erythema multiformeand herpes zoster have been mentioned already, andherpes simplex will be discussed in the next chapter. Der-matitis herpetiformis and porphyria are referred to later inthis chapter (see Systemic Disorders). Since pemphigusoften, and pemphigoid sometimes, can affect the face, thesewill be presented here briefly.

Pemphigus vulgaris usually starts in the oral mucosa andthen many months later involves the skin of the face(1.216). Large, thin bullae occur usually on normal skin andon rupture leave non-healing, red erosions on the face(1.217) and scalp (1.218). The epidermis can be made to

1.213Tinea corporis:advancing erythemawith scaling

1.214Herpes zoster:ruptured blisters withcrusting

1.215Clusters of vesicleswith scabs

1.216Pemphigus: rupturedbullae and mucosallesions

THE FACE 143

slide over the underlying dermis if lateral pressure isapplied to the skin with the thumb (Nikolsky sign).Pruritus is not a feature but the ruptured, raw erosionsare painful. Secondary infection and electrolyte imbalanceare common complications of generalized pemphigus.

Pemphigoid involves the face much less commonly thanpemphigus. Initially the lesions often appear as urticaria,eczema or erythema (1.219) and then evolve to form thickbullae, which may appear suddenly over various parts ofthe body (1.220). Unlike pemphigus, these lesions may itchbut they are less painful and the bullae are thick andrupture less easily.

An important diagnostic feature between pemphigusand pemphigoid is that in the former the bullae arise fromwithin the epidermis and are consequently thin and easilyruptured. In pemphigoid, on the other hand, the bullae aredermal-epidermal, thick and not easily ruptured. Thus,when one encounters a patient with many intact bullaethen pemphigoid takes the top place in the diagnosticconsideration. It is important to bear this in mind whenconsidering the various blistering disorders (see Table 1.7).

The differential diagnosis of these conditions is furtherdiscussed on page 60.

Infectious exanthemataSince the advent of effective vaccination, the blotchy ery-thematous rash of measles (1.221) is seen less often today.

Table 1.5 Some causes of vesiculobullous diseases

Intradermal (thin) blisters Dermal-epidermal (thick) blisters

Pemphigus

Herpes simplex

Herpes zoster

Pemphigoid

Dermatitis herpetiformis

Herpes gestationis

Erythema multiforme

Toxic epidermal necrolysis Porphyria cutanea tarda

Bullous impetigo Bullous disease in diabetes

mellitus

1.217 and1.218Pemphigus: rupturedbullae leavingnonhealing, red

1.219 and1.220Pemphigoid:erythematous lesionsand intact, thickbullae


44

The maculopapular rash, which rapidly coalesces to large,irregular blotches, appears on the face and trunk (1.222)approximately 2-4 days after the prodromal phase offever, catarrh and conjunctivitis. Koplik's spots are whiteor greyish-white patches, 1-3 mm in size, found over thebuccal mucosa (1.223) during the pre-eruptive stage andare highly characteristic of measles. These spots maypersist even after the rash has faded.

The hallmark of chicken pox (varicella) is that macules,papules, vesicles and .pustules appear simultaneouslyon the face and the trunk (1.224, 1.225). In adults, thelesions appear on an erythematous base. In children,varicella causes only a minor illness but adults mayexperience considerable malaise, headache and musclepains. In immunocompromised patients the condition isvery severe. Approximately one-third of children with lym-phoma and leukaemia who acquire a varicella infectionwill develop 'progressive varicella' associated with deepvesicles.

Darier's disease (keratosis follicularis) is a rare auto-somal dominant disorder of keratinization that is char-acterized by hyperkeratotic papules (1.226). It is not aninfectious disease but is presented here because it has to

be considered in the differential diagnosis of a 'spotty face'and can cause confusion to a generalist. The distinctivelesion is a firm, crusted, skin-coloured or yellowish-brownpapule appearing mostly on the face (1.227), scalp (1.228),hands, soles and on the flexural surfaces. Sometimesthe early lesions on the face may be mistaken for acne(1.201-1.203), but the presence of greasy papules withcrusted tops and the absence of comedones distinguish thetwo. In Darier's disease, the palms and soles may showpunctate keratosis with minute pits (1.229), which arepathognomonic.

In considering various dermatoses of the face, the clini-cian should be aware of the possibility that the lesions maybe self-inflicted (dermatitis artefacta). Such lesions varyfrom redness to ulceration, favour accessible (to thepatient) areas, have a bizarre shape, may be linear or oddlygrouped, and do not resemble any known pathologicalprocess (1.230). The same area may be repeatedlydamaged and the treatment, left to the patient to carry out,may not lead to any improvement (1.231, see also 2.4). Thepatient is usually a young woman with some medicalknowledge, who may be expecting some form of 'second-ary gain' from having skin lesions.

1.221Measles

1.222Measles: diffuse,blotchy rash

1.223Koplik's spots

1.224Varicella: macules,papules, vesicles andpustules

1.225Varicella:maculopapular andvesicopustularlesions

THE FACE 145

1.226Darier's disease:papules withhyperkeratotic crusts

1.227Hyperkeratoticpapules

1.228Yellowish-brownpapules andscattered pits

1.229Punctate keratosiswith pits

1.230Dermatitis artefacta

1.231Clean-cut, self-inflicted ulcers


46

Cutaneous manifestations ofsystemic disordersThe skin as a system, or an organ, shares the manifesta-tions of some diseases with other systems but it does so inits own special, pictorial way. It thereby provides a windowthrough which one can see, suspect and, at times, identifythe offending underlying disorder.

Gastrointestinal disordersIn the Peutz-Jeghers syndrome the orocutaneous pigmen-tation has a characteristic appearance of brownish-blackspots (lentigines) around the mouth (1.232). The pig-mented macules on the lips and oral mucous membranes(periorificial lentiginosis} may be present at birth or maydevelop during early childhood. These are usually associ-ated with multiple hamartomatous polyposis in the smallbowel, stomach and occasionally in the colon. Malignanttransformation of the polyps is known to occur particularlyin the Japanese with this syndrome. The condition is inher-ited as an autosomal dominant trait. Bowel polyposis andcutaneous lesions may not coexist in affected families.

A close look at a single spider naevus reveals a focaltelangiectatic network of dilated capillaries, radiating from

a central arteriole (punctum) (1.233). Although spiderangiomas may be present occasionally in normal subjects(mostly females) without any reason, they are usuallyassociated with hepatocellular disease (1.234) andwith hyperoestrogenic states such as pregnancy and oralcontraceptive therapy. On diascopy (pressing the skinagainst a glass slide), the central arteriole can be seen topulsate.

Dermatitis herpetiformis is a chronic, recurring,intensely pruritic blistering eruption (1.235) seen inyounger patients 30-40 years of age, with a high incidenceof associated coeliac disease. Small vesicles, papules andurticarial weals (1.236) occur often in symmetrical groups(1.237). Erythematous papules, tiny vesicles and some-times bullae are heralded by severe itching, which is a per-sistent symptom causing excoriation and crusting. Spottypigmentation occurs in chronic cases. Anaemia from ironor folate deficiency may be seen in association with thecoexisting malabsorption. A duodenal biopsy should beperformed in all patients with dermatitis herpetiformis.

Connective tissue disordersIn this group systemic lupus erythematosus is the com-monest condition with skin lesions on the face. Usually an

1.232Perioral pigmentedmacules

1.233Spider naevus

1.234Portal cirrhosis:spider naevi andtelangiectasia

1.235Dermatitisherpetiformis:groupederythematouspapules andruptured blisters

THE FACE 147

erythematous, confluent, macular and mildly oedematouseruption appears in a butterfly distribution (covering thecheeks and the bridge of the nose) predominantly infemale (80%) subjects (1.238). The rash is itchy and maybe maculopapular with some erosions and crusting (1.239).It may appear spontaneously but is sometimes induced,and often exacerbated, by exposure to the sun. Discoidpapules, as in the discoid variety, occur on the face andthere may also be scaling, hypopigmentation and vasculiticlesions (1.240, 1.241). A variety of drugs (Table 1.6)are known to induce a systemic erythematosus-likesyndrome.

Atrophic contracture of the skin from fibrosis of the con-nective tissue is the hallmark of systemic sclerosis. Even inthe early stages the thinned skin can be seen stretched overprominent bony parts such as the bridge of the nose, thelarynx and the trachea (1.242), with furrows radiating fromthe laryngeal prominence and the mouth. Such a patientmay also have telangiectasia on the face. The lips becomethin with perioral furrowing (rhagades), and the tighteningof the paper-thin skin may cause pitting over the bony endsof the nose (1.243).

As the condition progresses there is loss of the normalfacial lines associated with any emotional expression (such

1.236Papules, vesicles andweals

1.237Symmetricalpapulovesiculargroups

1.238Systemic lupuserythematosus:butterfly distribution

1.239Maculopapular rashwith crusting andscales

1.240Sharply demarcateddiscoid plaques

1.241Papular butterflyrash with erythemaand scaling


48

Table 1.6 Some common drugs known to induce systemiclupus erythematosus

Dose-time-related drugsHydralazineMethyldopaProcainamideIsoniazidChlorpromazineChlorthalidonePhenytoinTrimethadoneEthosuximideCarbamazepine

Idiosyncratic drugsAminosalicylic acidD-penicillamineGriseofulvinPenicillinAmpicillinStreptomycinTetracyclineMethylthiouracilPropylthiouracilPhenylbutazone

as a smile), producing a mask-like appearance witha pinched-out nose (1.244). The mat-like telangiectasia(1.245) are present not only on the face (1.242-1.244) butalso on the upper trunk, hands, neck, inside the mouth andin the gastrointestinal tract. This is a systemic disorder thatinvolves many organs (e.g. gastrointestinal tract, heart,kidneys, lungs, joints and muscles) causing fibrosis andatrophy of the connective tissues and small vessel oblitera-tion. The male to female ratio is 1:3 and the commonestpresenting feature is Raynaud's phenomenon (p. 174).

The heliotrope (reddish-purple) inflammatory rash overthe eyelids, face, neck, upper chest (1.246) and dorsa of theknuckles (Gottron's papules} is the most arresting andcharacteristic feature of dermatomyositis. There is usuallysome degree of fine scaling and oedema of the affected

1.242Systemic sclerosis.Note telangiectasiaon the lip andstretched skin overthe larynx

1.243Rhagades (perioralfurrowing) and nasalpitting

1.244Rhagades,telangiectasia andstretched skin withnasal pitting

1.245Systemic sclerosis:telangiectasia andpigmentation

1.246Dermatomyositis:heliotrope rash

THE FACE 149

areas. The oedema is particularly noticeable periorbitallywhen viewed from the side (1.247). The upper eyelids arealmost invariably involved and there may be telangiecta-sia scattered on the erythematous rash (1.248). Raynaud'sphenomenon occurs in approximately 20% of patients.Fatiguability, muscle pains and proximal muscular weak-ness occur in all patients. There is no agreement on the inci-dence of an associated malignancy (from 6 to 50%) but asearch should be made, especially in patients over 40 yearsof age and in those who respond poorly to conventionaltreatment.

Genetic and metabolic disordersCongenital erythropoietic porphyria (Gunther's disease) isa very rare disorder. Pink urine (stained nappies) and anacute cutaneous photosensitivity are two of its most char-acteristic features. The diagnosis is usually made in earlychildhood when the cutaneous manifestations of bullae,vesicles and ulcers occur on light-exposed areas. Patientssurviving beyond childhood show the effects of recurrent

exposure to the sun, and have diffuse and disfiguring scarson the face, with loss of portions of the fingers, nose, earsand eyelids (1.249). Erythrodontia, caused by the accumu-lation of porphyrins in the teeth, and splenomegaly asso-ciated with a compensated haemolytic anaemia occur inmost cases.

In variegate porphyria, vesicles and bullae occur morefrequently on the hands and feet; nevertheless inspectionof the face may prove rewarding since there is usually aheliotrope hue on the eyelids and sometimes around themouth (1.250). Acute neurological attacks (e.g. confusion,psychosis, generalized seizures, autonomic neuropathy,sensory and motor neuropathy sometimes leading to quad-riplegia and respiratory paralysis) are its most importantclinical features. Photosensitivity is not a presenting feature.

Mechanical fragility of the sun-exposed skin occurs inporphyria cutanea tarda and patients with this conditionmay present with hypertrichosis (1.251) especially in sunnyclimates. Papules and ruptured blisters may be seen onthe sun-exposed face and ears (1.252). Tense bullae onnormal-appearing skin occur on the dorsum of the hands

1.247Heliotrope rash withfine scaling andoedema

1.248Diffuse rash over theface and neck

1.249Congenitalerythropoieticporphyria: diffusescarring with loss ofnasal soft parts

1.250Perioral heliotropehue

1.251Hypertrichosis

1.252Papules andruptured blisters


50

(Chapter 9). As in the variegate variety, a purple-red huemay be seen on the eyelids and around the mouth. Acutelife-threatening attacks do not occur in this condition butit needs to be distinguished from variegate porphyria withwhich it shares cutaneous lesions. During acute attacksboth conditions have increased levels of uroporphyrinin the urine, but the diagnostic hallmark in variegateporphyria is its markedly elevated faecal protoporphyrinlevel.

The diagnosis is confirmed by the presence of an orange-red fluorescence of the urine when examined with aWood's lamp (1.253). It is always worth looking at aspecimen of urine from a patient suspected of havingporphyria cutanea tarda, since freshly passed urine maybe orange-red or brown-red (1.254). In congenitalerythropoietic porphyria, the colour of the urine ranges

from pink to dark red (1.255) owing to the presence ofuroporphyrins.

Neither xanthelasma nor the presence of an arcus is spe-cific to familial hypercholesterolaemia; however, thesesigns point to the possibility that there may be an under-lying lipid disorder that needs to be investigated. Xanthe-lasmata may be present in normolipaemic subjects, as inthis patient with longitudinal, yellowish plaques just belowthe lower eyelids (1.256). The plaque has a brownish hue,it is slightly raised and there is a cluster of three yellowishpapules medial to it (1.257).

An arcus in a young adult is highly significant and,together with xanthelasmata (1.258), suggests that theremay be lesions elsewhere on the body, as in this patientwith tuberous xanthomata (see also 9.177-9.179) and apositive family history for familial hypercholesterolaemia.

1.253Fluorescence: viewedin Wood's lamp

1.254Porphyria cutaneatarda: freshly voided

1.255Congenitalerythropoieticporphyria: darkish-red urine

1.256Bilateralxanthelasmata

1.257Multiple, creamyxanthelasma papules

THE FACE

51

Tuberous sclerosis (epiloia), an autosomal dominantdisease, is characterized by the presence of the red andwhite, firm and discrete papules of angiofibromata (1.259,1.260) (sometimes mistakenly called adenoma sebaceum).These are pathognomonic of this condition but appear latein infancy. The lesions are reddish, telangiectatic papuleswith a yellowish tint, varying from 1 to 3 mm in diameter,occurring mostly on the nasolabial folds and cheeks.Developmental and dysplastic lesions are found in otherorgans including the brain and kidney. The principal earlymanifestations are the triad of seizures, mental retardationand facial angiofibromata. The disease usually manifests inchildhood but a mild form may present in adult life. Clus-ters of skin-coloured fibromata on the nasolabial folds aretypical (1.261). The presence of periungual fibromas (see10.92,10.93) aid the diagnosis. Patients tend to have greasyskin; this is probably the reason why the angiofibromaswere misnamed adenoma sebaceum.

Haemochromatosis is a common and easily overlookedautosomal recessive genetic disorder. This is because the

cumulative iron deposition takes a long time (usually tothe age of 40 years or over) to produce organ damage andthere are very few early symptoms. As would be expected,clinical manifestations are more common in males and inpostmenopausal women. Fatigue is a particularly distress-ing and common symptom and there may be arthralgias,abdominal discomfort, impotence and amenorrhoea. Theskin pigmentation is often striking. With the increasingmelanin and haemosiderin deposition, the skin has a slate-grey appearance (bronzed diabetes) in over-exposed areassuch as the hands, neck and face (1.262,1.263). Other mani-festations include hepatomegaly, portal cirrhosis, hypo-gonadism and diabetes mellitus.

The hyperpigmentation of haemochromatosis shouldbe distinguished from that caused by transfusionhaemosiderosis (1.264), chronic amiodarone therapy(1.265, 1.266), and alcoholic cirrhosis, which causes bothiron overload and pigmentation. Some patients on long-term amiodarone therapy develop a bluish or slate-greypigmentation (1.265) caused by amiodarone deposition. A

1.258Arcus juvenilis andxanthelasmata

1.259Tuberous sclerosis:confluent, small,angiomatouspapules

1.260Multiple reddishmacules and papuleson and around the

1.261Clusters of skin-coloured andreddish papules inthe nasolabial folds


52

spell of long exposure to the sun can cause intense bluish-grey pigmentation of the cheeks, nose and forehead(1.266). Corneal deposition of the drug, photosensitivityand an exfoliative dermatitis are some of its other mani-festations. Patients with increased saturation of transferrin(more than 50%), and elevated serum iron and ferritinlevels should have a liver biopsy for the definitive diagno-sis of haemochromatosis. Once the diagnosis is made, otherfamily members should be screened, since early treatmentis quite effective in arresting the progression of the disease.

Mollusca fibrosa are soft, pink or skin-coloured, sessile(early) or pedunculated (late) tumours scattered over theface (1.267) and the rest of the body in neurofibromatosis.Small neuroma nodules develop along the course of cuta-neous nerves and these may be numerous, tender and dis-figuring. A malignant change to neurofibrosarcoma mayoccur in one of these, with a concomitant rapid increase

in size, as happened in a neuroma on the left side of theneck of this patient (1.267). Sharply defined, light-brownpatches called cafe-au-lait spots appear in almost allpatients. Freckling in the axillae (1.268) is pathognomonic.

Hereditary haemorrhagic telangiectasia is an autosomaldominant condition (also called Osier-Weber-Rendu syn-drome) that affects blood vessels, especially on the face, inthe mouth, the lungs and the gastrointestinal tract. Small,flat, violaceous telangiectatic lesions, approximately 1-3mm in diameter occur on the face (1.269), lips, mouth andhands. The typical lesion is a punctate, purplish-red maculeor papule with a tiny mesh of capillaries radiating from it(1.270). The telangiectasis results from dilatation, thinningand convolution of the venules and capillaries. Thesevascular meshes have neither contractile properties norany anatomical support, and they bleed spontaneously orafter minor trauma.

1.262Haemochromatosis:generalized, slate-greypigmentation

1.263Haemochromatosis:intense, slate-greypigmentation of sun-exposed face, neck andforearms

1.264Haemosiderosis:cutaneous and mucosalpigmentation

1.265Amiodaronepigmentation of theface, hands andnails

1.266Chronic amiodaronetherapy: dark,bluish-greypigmentation of theface and forehead

1.267Neurofibromatosis:multiple skin-coloured and pinkishpapules andnodules. Note thelarger swelling in theneck caused by aneurofibrosarcoma

THE FACE 153

Vascular malformations in the lung result in pulmonaryarteriovenous fistulas in approximately one-fifth of cases.These malformations increase in size and frequency withage and may cause recurrent haemoptysis, infections,hypoxaemia, clubbing and polycythaemia. The conditionshould be sought in patients with unexplained haemopty-sis and anaemia.

Endocrine disordersThe endocrine disorders that cause major changes to thefacial appearance have already been discussed (p. 3).Non-scarring alopecia and vitiligo, possibly associatedwith some endocrine and autoimmune disorders, and a

hormone-secreting tumour with cutaneous manifestations(glucagonoma) will need to be considered here.

Alopecia areata is a localized, well-circumscribed, ovalor circular loss of hair mostly affecting the scalp (1.271)but sometimes occurring on the beard, eyebrows or eye-lashes. Erythema may be present in the early stages but inwell-developed cases there are no inflammatory changes.Characteristically, the peripheral areas of hair loss arestudded with the diagnostic broken-off hairs called 'excla-mation mark hairs'.

Occasionally the hair loss may spread to the entire scalp(alopecia totalis) (1.272). This may be difficult to recognizein a patient wearing a wig, although the profuseness of thehair on the wig, and the difference between the colour ofthe native hairs in front of the ears and those of the wig(1.273) may be obvious to the discerning clinician. Alo-

1.268Neurofibromatosis:axillary freckling

1.269Osler-Weber-Rendusyndrome: multiple,discrete, red macularand papulartelangiectases

1.270Telangiectasis: amesh of capillariesradiates from thecentral punctum(arteriole)

1.271Alopecia areata

1.272Alopecia totalis

1.273Camouflagedalopecia totalis


54

pecia areata may be an autoimmune disease and is some-times associated with Hashimoto's thyroiditis, perniciousanaemia and diabetes mellitus. Progressive hair loss mayinvolve the entire body (alopecia universails}, as in thispatient (1.274) who also had pernicious anaemia and dia-betes mellitus. The hair loss was complete, affecting thescalp (1.275), eyelashes, eyebrows (1.276) and the rest ofthe body. The nails may show dystrophic changes, with thedorsal nail plate having multiple tiny depressions simulat-ing 'hammered brass'.

Vitiligo may manifest as scattered, circumscribed areasof hypomelanosis of the skin and hair around body orificessuch as the mouth and eyes (1.277). It also occurs overbony prominences, particularly of the hands, knees andelbows. In most cases, vitiligo is of idiopathic origin butthere is an increasing association with certain autoimmuneconditions such as thyroiditis, hyperthyroidism, diabetesmellitus, Addison's disease and pernicious anaemia.

Glucagonoma is a rare neoplastic condition with well-described cutaneous manifestations, caused by an over-production of glucagon in an alpha-cell tumour ofthe pancreas. The characteristic skin lesion is a super-ficial migratory necrolytlc erythema with central blistersor erosions that crust together, a beefy red tongueand angular cheilitis (1.278). The clinical features includeloss of weight, diabetes mellitus (without ketoacidosis),thromboembolic episodes, anaemia and psychiatricdisorders.

Cranulomatous and vasculitic disordersThis group includes all those conditions characterized bythe presence of granulomata and associated cutaneousmanifestations, such as sarcoidosis, which affects manyorgans and has distinctive cutaneous lesions.

1.274 and1.275Alopecia universalisin a diabetic subject

1.276Alopecia universalis:loss of eyebrowsand eyelashes

1.277Vitiligo: sharplydemarcated macules

THE FACE 155

Sarcoidosis is a chronic granulomatous disease ofunknown aetiology that affects young adults and presentswith skin lesions, pyrexia, ocular involvement, bilateralhilar adenopathy and pulmonary infiltrations. Erythemanodosum is the commonest cutaneous manifestation butmultiple maculopapular lesions (1.279), lupus pernio andsarcoid infiltration of scars also occur. The maculopapularand nodular lesions spread peripherally in an annularfashion and some of the lesions coalesce into brownish-purple plaques on the face (1.280). On closer examination,papular invasion of the epidermis with a resulting purplishhue can be seen clearly (1.281). On diascopy, these lesionsmay look somewhat like the 'apple-jelly' (yellowish-brown) of lupus vulgaris (see 1.207, 1.210 and 1.211) butthere is no scarring in sarcoidosis. Lupus pernio (or

chilblain) is a more homogeneous, dense, firm or soft, vio-laceous infiltration of the exposed parts such as the cheek,nose (1.282) and earlobes (1.283).

Wegener's granulomatosis is a distinct clinicopathologi-cal entity and consists of a triad of: (i) a necrotizing granu-lomatous vasculitis of the upper and lower respiratorytracts; (ii) a focal necrotizing glomerulitis; and (iii) a sys-temic small vessel vasculitis involving numerous organs.Cutaneous manifestations occur in approximately half thecases but in only approximately 10% of patients at initialpresentation. In almost all patients a history of symptomsreferable to upper respiratory catarrh or infection is obtain-able. Common symptoms and signs include a persistentnasal discharge, fever, cough, haemoptysis and nasalgranulomata.

1.278Migratory necrolyticerythema:inflammatorypapules, angularcheilitis and beefytongue

1.279Sarcoidosis:maculopapularreddish pepules

1.280Sarcoidosis:brownish-purplegranulomatousplaque

1.281Yellowish-browngranulomatousinfiltration of thecheek and nose

1.282Lupus pernio of thecheeks

1.283Lupus pernio:swelling andcongestion of thecold-exposed ear


56

Granulomatous involvement of the nasal mucosa maybe betrayed by a reddish hue of the skin overlying thegranulomata (1.284). The granulomata can be readily seenby looking up the patient's nostrils (1.285).

Renal disease is seen in approximately 80% of patientsand virtually dictates the outcome. The diagnosis shouldbe suspected strongly when an upper respiratory com-plaint is accompanied with haematuria and/or vasculiticlesions.

Vasculitides constitute a heterogeneous group of disor-ders that includes Wegener's granulomatosis and can beloosely classified under various subheadings:

• Hypersensitivity angiitis (e.g. Henoch-Schonleinpurpura, cryoglobulinaemia, hypocomplementaemicvasculitis);

• Allergic vasculitis from drug reactions;• Underlying infections (e.g. infective endocarditis,

meningococcaemia);• Neoplastic diseases (e.g. carcinoma, lymphoma,

leukaemia);

• Connective tissue diseases (e.g. systemic lupuserythematosus, rheumatoid arthritis, polyarteritisnodosa);

• Granulomatous vasculitis (e.g. Wegener's,Churg-Straus disease);

• Giant cell arteritis (e.g. temporal arteritis, poly myalgiarheumatica, Takayasu's disease).

The hallmark of the group is the predominance of cuta-neous involvement, which may appear as the classicalpalpable purpura on the face (1.286) and elsewhere onthe body. In addition, there may be macules, papules,nodules, bullae, ulcers and recurrent urticaria. The crustedlesions represent cutaneous infarction associated withnecrotizing vasculitis. The cutaneous manifestations,together with the involvement of one or more systems,suggest the possible presence of one of the vasculitides.For example, in meningococcaemia the tell-tale cutaneousvasculitic lesions may be red papules or petechiae (1.287),in association with fever, malaise, headache andmeningism.

1.284Wegener'sgranulomatosis:inflammatorygranulomatousinfiltration of the

1.285Wegener'sgranulomata

1.286Vasculitis: multiplepurpuric papuleswith same crusted(cutaneousinfarction) lesions

1.287Meningococcal .meningitis: reddishpapules

THE FACE 157

Vascular and haemovascular disordersThe Sturge-Weber syndrome is a nonfamilial congenitaldisorder of facial and cerebral blood vessels. It is charac-terized by an angiomatous malformation on the face (port-wine stain) (1.288), epilepsy and mental deficiency. Theport-wine stain is an irregularly shaped red or violaceoushaemangioma, and usually involves the area supplied bythe first or second division of the trigeminal nerve (1.289).It does not cross the midline but the skin supplied by thecorresponding branch of the opposite nerve may be simi-larly affected. In middle age it may darken and becomestudded with angiomatous nodules. There may be anangioma of the occipital and parietal leptomeninges on theside of the facial lesion. The underlying cerebral cortex isatrophic with deposits of iron and calcium, responsible forthe characteristic tramline appearance on CT scan of thebrain. The patient may have one of the other congenitalabnormalities usually associated with this condition (e.g.glaucoma, strabismus, optic atrophy, etc.).

Haematological abnormalities causing changes in theconstituents of blood (i.e. red and white blood cells, pro-teins, etc.) and cardiovascular disorders, individually aswell as in combination, inevitably affect the colour of theskin (easily visible on the face) caused by alterations in thehaematocrit and haemodynamics. Facial flushing and facialpallor are the two principal examples that are also two ofthe commonest findings encountered in the general popu-lation. A facial or malar flush may be seen in a healthy butsensitive young Caucasian female, particularly in a warmatmosphere, but it is also often found, irrespective of theweather, in association with mitral stenosis and is hencereferred to as mitral fades (1.290). Chronic facial flushingcauses permanent dilatation of the capillaries with tel-angiectasis (1.291).

In mitral stenosis, the malar flush is thought to berelated to pulmonary hypertension and peripheral vaso-constriction, but the so-called mitral facies is notspecific to mitral valve disease. It is also found in patientswith myxoedema (1.291) and aortic valve disease (1.292).

1.288Port-wine stain,strabismus

Note

1.289Port-wine stainalong thedistribution of thefirst division of thetrigeminal nerve

1.290Malar flush in apatient with mitralstenosis

1.291Long-standing malarflush withtelangiectasis


58

A dusky red face (1.293) is often seen in patients withpolycythaemia rubra vera although not all patients withfacial plethora have polycythaemia. These patients may beasymptomatic or may complain of headaches, dizziness orvisual symptoms. On questioning they may admit to havingnight sweats and generalized pruritus made worse by awarm bath. In addition to facial plethora, clinical exami-nation may reveal retinal vein distension and a palpablespleen. At the other extreme, pallor is a dependable mani-festation of either a low volume, low perfusion state or ofanaemia (1.294). In either event, pallor as a clinical sign

should be confirmed by inspecting the mucous membranes,particularly by looking at the guttering between the palpe-bral and bulbar conjunctiva (see 3.24).

The signs associated with hyperlipidaemias and abnor-mal hyperproteinaemias are discussed elsewhere (pp. 50,110,192).

Diagnostic considerationsThe diagnosis of various skin lesions is dependent essen-tially on familiarity with their appearance which can be

1.292Long-standing malarflush withtelangiectasis in abutterfly distribution(aortic valve disease)

1.293Polycythemia rubravera: diffuseplethora

1.294Pallor

1.295Psoriasis: well-defined plaques withsilvery-white scales

1.296Psoriasis: plaques onthe knees

1.297Familialhypercholesterolaemia:tuberous xanthomata

1.298Psoriasis: pitting ofthe nails

THE FACE 159

gained by looking at as many pictures and patients as pos-sible. Any clinician who takes the trouble to study andunderstand the unique pattern of a lesion in an atlas willfind it easier to identify it when it is seen on a patient.When studying a lesion, particular attention should be paidto its various components such as its size, shape, base,edges, surface, the state of the surrounding skin, and itsareas of predilection. For example, even part of a lesionwithout its anatomical relationship can be recognized aspsoriasis by the presence of sharply defined, keratotic,silvery-white plaques on erythematous skin (1.295). Itspredilection for extensor surfaces (1.296, see also 9.61) iswell known, as is that of tuberous xanthomata (1.297), yetthe two can hardly be confused with each other since bothlesions have strikingly different appearances. The knowl-edgeable clinician will also look for other familiar lesions

known to be caused by the suspected disease such as thepitting of the nails in psoriasis (1.298).

Unfortunately, skin lesions of many diverse diseases canlook the same, and even those known to have characteris-tic features do not always possess them. Thus, the lesionsof solar keratosis (1.299) may not look much different fromthose caused by dermatitis herpetiformis (1.235), discoidlupus erythematosus (1.240) or porphyria cutanea tarda(1.252). Similarly, lymphocytoma of the skin over the nose(1.300) may not be easily distinguishable from lupus pernio(1.301) or discoid lupus erythematosus (1.240). Without aproper history and meticulous attention to the entire faceand forehead, these lesions of pellagra with thickening, fis-suring and scaling of the skin (1.302) may be accepted assimple facial plethora in a patient who subsists on alcoholfor calories.

1.299Solar keratosis:tanning, brownish-red macules andwrinkling (solarelastosis)

1.300Cutaneous B-celllymphoma: well-defined, bluish-rednodule

1.301Lupus pernio: diffusereddish-browngranulomatousinfiltration of thenose and adjoiningcheeks

1.302Niacin deficiency:diffuse erythemawith tanning of light-exposed areas


60

It is clear that many disorders of the skin, like those ofany other system, cannot be diagnosed without a properand comprehensive clinical assessment. Whenever thelesions look similar (e.g. pemphigus, pemphigoid and der-matitis herpetiformis), attention should be directed to thepersonal history of the patient, the mode of onset of thelesions, the pattern of their occurrence, their distribution,the state of the surrounding skin, and the associated symp-toms. These points are well illustrated by considering thedifferential diagnosis of the various blistering disorders(Table 1.7). Pemphigoid blisters usually arise on erythe-matous skin (1.303) and, unlike those of pemphigus(1.304), intact ones are often seen because they are thickand rupture less easily. At first sight, the collapsed blistersof pemphigus (1.304) may look like those of dermatitisherpetiformis (1.305) but the lesions of the latter occur ingroups whereas those of the former are more haphazardlydistributed. In addition, itching is a major symptom of der-matitis herpetiformis and not of pemphigus.

As can be seen in Table 1.7, the age of onset, the pres-ence or absence of constitutional symptoms, any associatedsymptoms, the uniqueness of lesions, the colour of thelesions and of their surrounding skin, their distribution andtheir sites of predilection all help to distinguish the variousforms of blistering diseases. Similar logic can be applied indiagnosing other skin lesions, whether they reflect theprimary skin or underlying systemic disorders.

Miscellaneous facialdisordersIf there is no evidence of an endocrine or a neuromuscu-lar disorder and there is no mucocutaneous abnormality,then the clinician should scan each part of the headsequentially. In practice, experienced clinicians usuallyscan the scalp and face in one glance, looking for the pres-

Table 1.7 The d

DiseasePemphigus

Pemphigoid

Dermatitisherpetiformis

Erythemamulti forme

Porphyriacutanea tarda

fferential diagnosis of blistering diseases

HistoryWeakness, wasting,no pruritus

Prodromalurticaria/eczema,occasional pruritus

Intense itching andburning sensation

Exposure to drugs,fever, malaise

May follow alcohol,oestrogens, etc.

Age of onset40-60 years

60-80 years,may occur inchildren

20-40 years

Usually below30 years

30-40 years

LesionsSkin-coloured normalskin, thin/ruptured bullae

Tense bullae on erythematousskin

Erythematous papules,vesicles, urticarial weals

Macules, papules, vesicles,bullae, target lesions

Vesicles, bullae, hypertrichosis

DistributionMouth, face, scalp, chest,axillae

Generalized, rarely inoropharynx

Scalp, face, extensor areas

Hands, trunk

Symmetrical, sun-exposedareas: hands, face, ears

1.303Pemphigoid: intactblisters arising onerythematous skin

1.304Pemphigus: rupturedblisters leaving non-healing red lesions

1.305Dermatitisherpetiformis:groups ofpapulovesicularlesions

THE FACE 161

ence or absence of abnormalities in all the major groups.Since the objective is that nothing must be missed, theobserver should follow a set pattern, taking into accountall the groups without the need to exclude one groupbefore looking for the lesions from the other group.

It is beyond any argument that a clinician familiar withthe appearances of the typical facies of Down syndrome(previously known as mongolism) (1.306) will not wait torule out the first three groups before making a diagnosis.He or she will use the same set routine on this face, sinceDown syndrome does not exclude the other possibilities.

The facial features are so characteristic that all Downpatients look alike; their palpebral fissures are almond-

shaped, and the eyes slant upwards with the outer canthibeing higher than the inner ones. Most Down patients haveepicanthic folds (a semicircular fold of skin crossing verti-cally over the inner can thus) (1.307). The mouth is oftenkept open with the tongue partially protruding through it.

The syndrome of mongolism is now named after J.H.Down (1828-1896) who suggested in an article ('TheEthnic Classification of Idiots'] that the resemblance ofmany congenital idiots to mongolian and other allied racesis related to their evolutionary status when intelligencehad not reached its Caucasian apex. It is ironic that theterm Down syndrome is used to avoid offending Chineseand Japanese investigators!

1.306Down syndromefacies: upwardslanting, almond-shaped eyes withopen mouth

1.307Down syndrome.Note the prominentepicanthic fold onthe left side


62

In search of various abnormalities in this group, oneshould start by looking at the scalp to see whether thereare any lesions on it, and whether the cranium looksenlarged (as in Paget's disease and hydrocephalus), payingparticular attention to the frontal and occipital areas thatlook protuberant and irregular in Paget's disease (1.308).The enlargement of the frontal bones can be appreciatedbest by looking at the patient's frontal view (1.309). Asimultaneous glance over the clavicles may reveal thatthese are also prominent and involved in the diseaseprocess. The cranium, the clavicles and the long bones ofthe legs are most commonly found to be abnormal. Occa-sionally, the diagnosis may be made on a chest X-ray,having been taken for some unrelated reason, whereone or both clavicles may look enlarged with a fuzzyoutline indicating a combination of osteosclerosis andosteolysis.

The frontal bossing of Paget's disease is sometimes dif-ficult to detect - particularly in a patient with a large andsquare face. There is usually a sharp drop where theenlarged frontal bone curves laterally, the supraorbitalridges may be enlarged and prominent, and the claviclesmay be abnormal (1.310). All these features can be seenclearly in the lateral view (1.311).

In some patients the base of the skull is involved as sug-gested by a bitemporal prominence in the frontal view(1.312). Severe enlargement of the base of the skull maylead to basilar impression and compression of the spinalcord, the brainstem, the vertebral and spinal arteries andthe cerebellum producing a variety of symptoms (e.g. pain,syncope, dysarthria, visual disturbances, etc.).

While looking at a patient's face the clinician should notonly search for a structural abnormality, important thoughthat may be, but also examine facial expression, which will

1.308 and1.309Paget's disease:enlarged calvarium,lower jaw andclavicles

1.310 and1.311Paget's disease:enlarged skull withprominentsupraorbital ridgesand grossly enlargedclavicles

1.312Paget's disease:bitemporalenlargement

THE FACE 163

reflect inner emotion, and may suggest a psychological oran organic disorder. These signs are usually 'soft' and donot have a specific connection with any one particulardisease, but emotional lability is an exception and suggestsdiffuse cerebrovascular disease or dementia. The patientappearing normal at first sight (1.313) may suddenly startcrying (1.314) and equally abruptly erupt into a smile(1.315).

A history of pain in the temporal region of the scalp,headache, visual disturbances, or facial pain during

chewing should direct the clinician's attention to the pos-sibility of temporal arteritis. In such patients there may bea nonpulsatile, tender swelling of part of the temporalartery (1.316). It is a valuable sign of a medical emergencythat if untreated may lead to loss of vision.

The inspection of the forehead may reveal some inter-esting features such as coal-dust tattoos as in this coalminer (1.317). Such coal-dust scars (1.318) present a rele-vant piece of nonverbal history in a patient with a respira-tory complaint.

1.313Cerebrovasculardisease: recoveringfrom a recentcerebrovascularaccident

1.314Starts crying inresponse to a 'hello'

1.315Abrupt andunsolicited changeinto a smile!

1.316Temporal arteritis:enlarged superficialtemporal artery

1.317A coal miner with achronic respiratorydisorder and a tell-tale sign

1.318Coal-dust tattoos


64

In the Ehlers-Danlos syndrome (1.319), the bridge of thenose tends to be flat and wide giving a characteristicappearance to the face. The skin, especially over the neck,axillae, groins and the trunk, is smooth and stretches likea piece of elastic when pulled out from the underlyingstructures (1.320). The syndrome consists of a group ofmore than 10 inherited connective tissue disorders char-acterized by soft, velvety and hyperextensible skin, marked

joint laxity, easy bruising, hernias, kyphoscoliosis and'cigarette-paper' scars in areas of trauma (1.321). In onevariety there may be rupture of viscera and arteries. Manyof these patients have varicose veins, abnormal joint mobil-ity (1.322) and thin, translucent skin with visible veins.

A depressed nasal bridge (saddle nose) is classically asso-ciated with congenital syphilis (1.323,1.324). This is a con-sequence of destruction of the nasal cartilage caused by

1.319Ehlers-Danlossyndrome: a flat,wide nose

1.320Ehlers-Danlossyndrome: elasticand mobile skin

1.321'Papyraceous' scars

1.322Hyperextensiblejoints

THE FACE 165

infection of the nasal mucosa (snuffles} soon after birth.These patients also have periostitis causing prominence ofthe frontal bones, poor development of the maxilla, andanterior convexity of the tibiae (sabre shins) (see 11.52).

A depressed nasal bridge is also a characteristic featureof the mucopolysaccharidoses, a group of inherited disor-ders caused by incomplete degradation and storage of acidmucopolysaccharides (glycosaminoglycans). Hurler's syn-drome is the most severe form of these disorders. The facialfeatures become progressively coarser after the first year

of life. The head is large and dolichocephalic with fron-tal bossing, the bridge of the nose is depressed and thenose is broad and flat (1.325). These patients also havehepatosplenomegaly, kyphosis, dysostosis multiplex andcorneal opacities.

The soft parts of the nose may be enlarged either bymultiple nasal polyps (1.326) or because of outgrowthsof fibromata (1.327). In the latter condition (hyalinefibromatosis) there are recurrent outgrowths of fibromataon the nose, face, ears and joints.

1.323 and1.324Congenital syphilis:flat, depressed nasalbridge

1.325Hurler's syndrome:flat nasal bridge,wide-set eyes andfrontal bossing

1.326Multiple nasalpolyps

1.327Hyaline fibromatosis:fibromatousoutgrowths


66

Alteration of the facial appearance can also be causedby underdevelopment, atrophy or enlargement of thevarious constituents of the face. An overall thinning of theface, particularly of the temples, may be a reflection of gen-eralized wasting. Although the presenting complaints andthe subsequent clinical assessment can lead to a correctdiagnosis from the many possibilities that cause wasting(e.g. malignancy, malabsorption, gastrointestinal disorders,chronic infections, etc.), some cases may be seen initiallywith an unrelated complaint. Among these are malnutri-tion caused by social deprivation (1.328), malabsorptionand Crohn's disease (1.329). Patients with anorexianervosa often insist that they are eating well, many even

believe that they are overweight, but their facial featuressuggest undernutrition (1.330).

Neuromuscular disorders including facial hemiatrophyhave been discussed earlier in this chapter (p. 29). Loss offacial fat may make the normal muscles look prominent inlipodystrophy (1.331; see also 1.15 and 1.16). Asymmetryof the face may be caused by facial hemiatrophy (see1.145), or by a cavernous haemangioma (1.332).This lesionis not present at birth but appears during childhood. Acavernous haemangioma is a deep, vascular malformationcharacterized by a soft compressible deep-tissue swellingand surface varicosities.

The maxillary hypoplasia and other associated abnor-

1.328Lonely andundernourished:smiles after a goodhospital meal!

1.329Crohn's disease: lossof weight anddepression

1.330Anorexia nervosawith marked loss ofsubcutaneous fatand muscle mass

1.331Lipodystrophy withprominentmusculature

1.332Cavernoushaemangioma:bluish swelling of theright face

THE FACE 167

malities of the Treacher Collins syndrome (mandibu-lofacial dysostosis) can produce a characteristic facialappearance with sunken cheek bones, receding chin(mandibular hypoplasia), colobomas of the lower eyelids,downward pointing palpebral fissures, deformed pinnasand auditory canals (1.333). The condition can be diag-nosed usually at birth, and certainly in early infancy, sincethere may be mandibular hypoplasia with a tapering chin,a blind fistula between the angle of the mouth and the ear(1.334), or a deformity of the eyelids and ears. Early diag-nosis and the recognition of an associated conductive

hearing loss are important to prevent the possible delayedlearning and retardation caused by deafness.

Even though the bulk of the muscles, fat and bones inthe face may be normal, the rigidity of the muscles inParkinson's disease may give the face an abnormal mask-like appearance (1.335). Evidence of poor muscular mobil-ity, although often subtle in the early stages, can be seenwhen a patient tries to smile (1.336).

Enlargement of the parotid gland alters the facialappearance even though at times the change may notbe very obvious, since the bulk of the gland lies below

1.333Treacher Collinssyndrome: maxillaryhypoplasia,downward-pointingpalpebral fissuresand colobomas oflower eyelids

1.334Treacher Collinssyndrome:mandibularhypoplasia, blindfistula and deformed

1.335Parkinson's disease:mask-like facies

1.336Poorly mobile facialmusculature


68

and behind the ear, and the swelling may be onlyminimal (1.337). Mumps is the commonest cause ofbilateral or unilateral enlargement of the parotid glandin children (1.338). Occasionally, it occurs in adults andmay be complicated by oopheritis, epididymo-orchitis,meningitis and pancreatitis. Meningitis is a frequent com-plication in children but usually resolves without anysequelae.

The parotid glands are also enlarged in portal cirrhosis

(especially of alcoholic origin), Sjogren's syndrome (1.339)and when involved in a neoplastic process. In Sjogren'ssyndrome the patient is usually female (with a female:male ratio of 10:1) and may have the sicca complex withdry eyes and dry mouth. The parotid glands are diffuselyenlarged (1.340) and sometimes there may be swelling ofthe submandibular (1.341) and lacrimal glands. If only apart of the gland is enlarged then it is more likely to beneoplastic (1.342).

1.337Parotid swelling

1.338Mumps: unilateralparotid swelling

1.339Sjogren's syndromewith bilateral parotidswelling

1.340Diffuse parotidswelling causing ahollow anteriorly

1.341Sjogren's syndromewith submandibulargland enlargement

1.342Malignant tumour ofthe parotid gland

2 THE MOUTH69

The mouth should be inspected with the patient facing agood natural source of light. This is particularly importantwhen looking for cyanosis, pallor and excessive redness ofthe lips, gums, tongue and the buccal mucosa. The variousindividual components of the oropharynx should be exam-ined sequentially.

The lipsAn acute inflammation of the lips with painful fissuringand scaling (cheilitis) at the angles of the mouth (angularcheilitis, angular stomatitis) (2.1) is usually the result ofphysical damage to the lips by sunlight or cold wind. Inpatients with ill-fitting dentures, the skin and the mucosa

at the corners of the mouth become macerated because ofdribbling saliva, which causes fissuring of the angles of themouth, or cheilosis (2.2). It is also a feature of deficiencyof the vitamin B complex, especially of riboflavin (2.3).Angular cheilosis is sometimes complicated by monilialinfection, particularly in immunocompromised states.Angular stomatitis may also be self-induced, as in thispatient (2.4) who produced recurrent ulcers by digging hisnails into the angles of his mouth.

By far the commonest infection of the lips is herpessimplex, which may start as a simple vesicle (2.5), laterproducing a cluster of vesicles and extending to themucosa with ulceration (2.6). The infection may occur inhealthy but susceptible subjects and it is often seen in asso-ciation with the common cold and other acute febrile statessuch as pneumococcal pneumonia. The lips may also be

2.1Angular cheilitis

2.2Angular fissuringcaused by dribblingsaliva

2.3Angular cheilitis:vitamin deficiency

2.4Intractable self-induced ulcer

2.5Herpes simplex: anintact vesicle

2.6Herpes simplex:mucosal ulceration


70

involved in other cutaneous infections; for example intinea corporis they have sharply marginated, red plaques(2-7).

A primary syphilitic chancre is a painless nodule that canulcerate but it is rarely seen today. More commonly onemay see a simple wart (2.8). A cavernous haemangiomais a bluish, compressible nodule that may occur on thelips (2.9). Both these lesions should be differentiated froma squamous cell carcinoma, which may start as a warty,crusted ulcer.

The granulomatous process of Crohn's disease mayinvolve any part of the alimentary tract from the lips to

the anus. Oral lesions have been reported in 6-20% ofpatients; these occur more commonly in patients withcolonic disease, and in those who have other extraintesti-nal manifestations such as joint and skin lesions. Orallesions may precede the onset of intestinal disease, thus thecondition should be suspected in any patient presentingwith swollen lips (2.10, 2.11). Either of the lips may beinvolved with submucosal inflammation, oedema and fis-suring, sometimes complicated by superadded cheilosisand ulceration (2.12). Aphthous ulcers and hyperplasia ofthe cheeks with fissuring of the buccal mucosa (2.13) mayoccur in some patients.

2.7Tinea corporis:spreadingerythematous ring

2.8Simple wart

2.9Cavernoushaemangioma

2.10Crohn's disease withgranulomatousinfiltration of thelower lip

2.11Crohn's disease lips

2.12Crohn's disease:swollen lips withfissures and angularstomatitis

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Multiple angiomas, varying from the size of a pinhead to3mm in diameter, occur on the mucous membranes inhereditary haemorrhagic telangiectasia (Osier-Weber-Rendu syndrome) (2.14) and in systemic sclerosis (2.15).Often the differential diagnosis is not difficult by the timethe oropharynx is examined (see pp. 47,52). In general, theangiomata tend to be small, flat and discrete in systemicsclerosis, whereas those in hereditary haemorrhagic tel-angiectasia are larger, fleshy (2.16) and profuse involvingthe tongue and the buccal mucosa.

The brown, or brownish-black specks, of the Peutz-Jeghers syndrome should be looked for at the mucocuta-neous junction of the lips and around the mouth (2.17).

Macules on the lips may disappear over time but oral pig-mentation persists as an important diagnostic feature ofthis condition. As mentioned earlier (p. 46), their clinicalimportance lies in their association with polyps in the smallintestine which may cause intussusception and intestinalobstruction.

Sometimes a chance discovery of pigmentation in themucous membrane of the lips (2.18) is the first clue ofAddison's disease. More often the clinician has to lookdiligently for buccal pigmentation (see 1.95) in a patientsuspected of having the disease. Although similar pig-mentation may be seen in haemosiderosis (2.19) a historyof multiple transfusions will resolve the issue.

2.13Crohn's disease:aphthous ulcer

2.14Osler-Weber-Rendusyndrome: mucosaltelangiectases

2.15Systemic sclerosis:mucosaltelangiectases

2.16Osler-Weber-Rendusyndrome: large,fleshy angiomata

2.17Peutz-Jegherssyndrome:mucocutaneouslentigines

2.18Addison's disease:mucosalpigmentation


72

The gums and teethThe gums, or gingivae, are part of the teeth-supportingapparatus and cover and protect the underlying tissuesfrom the oral environment. Healthy gums are pinkish-red, firm, knife-edged and scalloped to conform with thecontour of the teeth (2.20). The colour may vary with themelanin pigment in the epithelium, the vascularity and theamount of haemoglobin present in the blood. In Caucasiansubjects, there is minimal pigmentation but some womenmay be left with marked gingival pigmentation aftermultiple pregnancies (2.21). A heavy and regular intake ofcoffee and prolonged smoking can cause staining of theteeth and gums (2.22). A high concentration of fluorine in

the drinking water is also associated with marked stainingof the teeth and gums (2.23). Chlorhexidine mouthwashesand red wines are also known to cause tooth stains.

Tetracydine staining of the teeth, often with hypoplasia(2.24), occurs when tetracycline is administered during theperiod of tooth formation, either to the pregnant motheror to a child up to the age of 12 years. This condition israre today since there are safer alternative antibioticsavailable.

In cystic fibrosis, decreased saliva production associatedwith an inadequate attention to oral hygiene maycause discolouration, calculus formation (2.25) andPseudomonas aeruginosa colonization of the mouth.

The gums, together with the alveolar bone, form themain components of the periodontium. Periodontal

2.19Haemosiderosis:diffuse mucosalpigmentation

2.20Normal teeth andgums

2.21Gingivalpigmentation:multiple pregnancies

2.22Tobacco andcaffeine staining

2.23Excessive fluorinestaining

2.24Tetracyclinestaining with gumhypoplasia

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disease starts as gingivitis with red, swollen and friablegums (2.26) and leads to the loosening and loss of teeth(2.27). Dental plaque is a constant source of irritation,inflammation and pocketing of the gingival margin, whichcuffs around the origin of the teeth. The plaque consists ofnumerous multiplying bacteria, which attach to the sali-vary pellicle (salivary glycoprotein forming a protectivelayer on the surface of the teeth) superadded with foodresidue. Although the dental plaques are invisible tothe unaided eye, bad oral hygiene indicated by multipleplaques, food residues and inflamed gingival margin is easyto see (2.28), especially when compared with healthy gumsfree from plaques (2.29).

Some of the plaques become calcified and form a stonycrust, or tartar, which deposits on the teeth and encroaches

on to the undersurface of the gums (2.30, 2.31). Supragin-gival calculus is deposited first on the tooth surface oppo-site the salivary ducts, on the lingual surfaces of the lowerincisors (2.30) and on the buccal surfaces of the uppermolars. Subgingival calculus is attached to the root surfaceand its distribution is unrelated to the salivary ducts butrelated to the presence of gingival inflammation (2.31). Itis dark green or black and tightly adherent to the toothsurface.

Plaque deposition, bacterial colonization, mineraliza-tion, gingivitis and pocket formation are the steps thatlead to advanced periodontal disease and premature lossof teeth. Thus, plaque control and good oral hygieneform the cornerstone for prevention of periodontal diseaseand preservation of teeth, as illustrated by this sub-

2.25Cystic fibrosis:marked calculusformation

2.26Gingivitis: inflamedand swollen gums

2.27Advancedperiodontal diseasewith loose teeth

2.28Poor oral hygienewith food residueand plaque inbetween and aroundteeth

2.29Good oral hygienewith clean gingivalmargins

2.30Tartar on the teeth


74

ject (2.32) who had all his teeth intact at the age of 75years.

Plaque is invisible and is often difficult to dislodge. Sinceplaques contain organic matter they can be stained withfood-colouring agents such as erythrosin, which is the chiefconstituent of the so-called disclosing tablets, to makethem visible (2.33). This method can be used to test theeffectiveness of brushing of the teeth as illustrated in

Figures 2.34 and 2.35, in which right-handed patients havemissed more plaques on the right side than on the left sideof the mouth.

Unchecked plaque formation leads to gingival inflam-mation (2.36). The gums become swollen, spongy, red,friable and bleed after minor trauma, such as eating anapple. The gums separate from the teeth giving rise topockets, which may not be easy to detect unless exposed

2.31Tartar eroding underthe gums

2.32Well-preserved teethin a man aged 75years

2.33Disclosing agentrevealing thewidespread plaqueformation

2.34 and 2.35Disclosing agentafter thoroughbrushing: residualplaques suggestsinadequate brushing

2.36Gingivalinflammation due tochronic plaqueformation

2.37Gingival probe

2.38Advancedperiodontal diseasewith canine drifting

• ;.«*»- -

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75

with a special probe (2.37). Advanced periodontal diseasewith bone resorption may cause drifting of canine teeth(2.38) and will eventually lead to tooth loss.

Periodontal disease, as described above, is very commonin the general population but it is usually left to dental sur-geons to diagnose and treat. In contrast, swelling of thegums (2.39), which is far less common than periodontaldisease, attracts much more attention among physiciansbecause of its connection with various drugs and medicaldisorders, for example:

Puberty;Pregnancy;Drugs (e.g. phenytoin, nifedipine);Gingivitis (e.g. periodontal disease, Vincent'sulcerative gingivitis);Amyloidosis;Acute myeloid leukaemia;Scurvy.

Hyperplasia of the gums is frequently seen in associationwith long-term phenytoin therapy for epilepsy (2.40). Sucha patient will give a history of seizures and may also havesome of the other side-effects of the drug such as dizziness,nausea, hirsutism, diplopia, ataxia, lymphoma-like syn-drome, lupus erythematosus, pulmonary fibrosis and mega-loblastic anaemia caused by folate malabsorption. Thedifferentiation from periodontal disease, with which it maycoexist, may be difficult. In drug-induced hyperplasia(2.41) the dental margin of the gums is swollen and spongybut not inflamed and friable as in periodontal disease(2.36). Patients with gum hypertrophy need to take extracare to maintain good oral hygiene.

Prolonged vitamin C deficiency, or scurvy, characteristi-cally leads to gingivitis with swollen, fragile and purplishgingival papillae (2.42, 2.43). The condition is uncommontoday but is still found among socially deprived elderlypatients.

2.39Swollen gums

2.40Phenytoin gumhyperplasia: swollen,spongy gums

2.41Drug-induced gumhyperplasia

2.42 and 2.43Scurvy: gingivalhypertrophy withpurplishdiscolouration


76

One of the diseases with swollen gums that needs urgentattention is acute leukaemia, especially of the myelomono-cytic variety (2.44). The dentist may be the first person tosee such a patient and needs to be aware of the associa-tion. The absence of any of the other causes of gum hyper-plasia, and a history of a haemorrhagic diathesis, shouldsuggest the diagnosis of acute leukaemia.

The common conditions of dermatological interest thataffect the oral mucous membrane are moniliasis, lichenplanus, erythema multiforme, pemphigus, herpes and sec-ondary syphilis. Herpetic vesicles appear on an erythema-tous base and then erode and form ulcers. These lesionsare often seen in clusters (2.45). Pemphigus (2.46), and lessoften pemphigoid, also involve the oral mucous mem-brane. In the former the typical lesions are erosions, and

bullae are rarely seen, whereas in pemphigoid there maybe erosions and bullae that are not easily ruptured.

Patients with acute lesions of the gums and lips usuallypresent first to their general practitioners but they are alsoseen in hospital practice. Self-induced injury to the gums(2.47,2.48) is often recurrent and erosions tend to occur inthe same place. There are usually seen around the incisorswhich are easily accesible to the patient. Self-biting ulcerscharacteristically occur at the angles of the mouth (2.49)where the mucous membrane is easily trapped betweenthe two sets of canine teeth.

Acute ulcerative gingivitis known as Vincent's disease oracute necrotizing gingivitis (2.50, 2.51) is caused by avariety of organisms, particularly Borrelia vincentii andFusobacterium nudeatum. It is a disease of young adults,

2.44Acutemyelomonocyticleukaemia: gingivalhypertrophy withhaemorrhages

2.45Herpes simplex:cluster of ulcers

2.46Pemphigus: inflamedmucosa andulceration

2.47Self-induced erosionabove the rightincisor

2.48Self-induced erosionabove the incisors

2.49Self-biting ulcer atthe angle of themouth

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77

occurs equally in both sexes, and most cases are seen inspring and autumn. The presenting features are sponta-neous bleeding, gingival soreness, alteration of taste and adisagreeable halitosis. Predisposing factors include malnu-trition (trench mouth of soldiers in World War I), an extra-oral malignancy, blood dyscrasias and heavy smoking.

Aphthous ulcers are the most common lesions of theoral mucosa. The ulcers may be small (Mikulicz's aphthae)and punched out with an inflamed margin (2.52). Majoraphthous ulcer (periadenitis mucosa necrotica recurrens)starts as a submucosal nodule and soon breaks down toform a crater-like ulcer (2.53), which may last for over amonth. The characteristic features of aphthous ulcers arethat they are painful, recurrent, and may occur anywhereon the oropharynx. They are of unknown aetiology but aresometimes associated with a variety of conditions such as

collagen disorders, gastrointestinal diseases and Behcet'ssyndrome.

Chronic desquamative gingivitis (gingivosis) occursmostly in young females. In the moderately severe formsthere is erythema of the marginal, interdental and attachedgingiva, with desquamation of the epithelium of the inter-vening gingiva, revealing the underlying grey surface(2.54). Patients complain of a burning sensation andcannot tolerate tooth brushing, condiments and inhalationof air.

The gingiva may become swollen and red duringpuberty, pregnancy and in women taking the contraceptivepill, but frank gingivitis is uncommon in pregnant womenwho maintain good oral hygiene. Occasionally, a 'preg-nancy tumour', or epulis (2.55), develops from an inflamedgingival papilla. It is a form of pyogenic granuloma and

2.50 and 2.51Vincent's disease:acute necrotizinggingivitis

2.52Aphthous ulcer witha well-defined,inflamed margin andclean base

2.53Deep aphthous ulcer

2.54Chronicdesquamativegingivitis

2.55Epulis: a formof pyogenicgranulomaassociated withpregnancy


78

presents as a localized, red, pedunculated swelling (2.56),which may become large enough to displace a tooth (2.57,2.58). The term angiogranuloma is often applied to avoidthe implication of a neoplasm. Removal of the epulisshould be associated with the removal of local irritants andwith fastidious dental hygiene without which the swellingalways recurs. Occasionally, an epulis may achieve gigan-tic proportions (2.59). They bleed easily and cause maloc-clusion of the teeth. Although spontaneous regressionfollows after delivery, the complete elimination of theresidual inflammatory lesion requires the removal of allforms of local irritation.

Excessive sugar intake predisposes the teeth to caries.Even the milk-teeth can be affected, as seen in this infantwho was habitually sucking a dummy covered with sugar(2.60.)

The tongueThe clinician should have a set of observations with defi-nite questions and the possible answers as a litany whenexamining the tongue, since repeated requests to protrudethe tongue become wearisome for the patient. It should belooked at for its size (e.g. macroglossia, hemiatrophy,global atrophy), shape (e.g. triangular, square or lobed),colour (e.g. pink, red, blue or pale), state of hydration (e.g.moist, dry, furred and coated), papillae (e.g. normal, en-larged or atrophied), vessels (e.g. prominent, angiomata),and for any lesions on it. At a single look the clinicianshould be able to obtain answers to several pre-set ques-tions (Table 2.1). A prolonged or further inspection maybe necessary only if an abnormality has been found.

The normal tongue is moist, red or pink-red, usuallyuncoated and triangular with the protruding tip being nar-

2.56Large epulis

2.57Large epulisdisplacing teeth

2.58Large epulisencroaching onthe canine tooth

2.59Gigantic epulis

2.60Caries in infantileteeth: the 'sugareddummy teeth'

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79

rower than the base inside the mouth (2.61.) Sometimesthe tongue of a healthy subject may be coated, in theabsence of dehydration, pyrexia or mouth breathing. A drytongue will impart little or no moisture to the examiner'sfinger tip touching it. Common causes of a dry tongue aremouth breathing, dehydration, and the ingestion of anti-depressants and atropine-like drugs. Sjogren's syndromeand local radiotherapy also cause a dry tongue but, in suchcases, there will be other supportive signs and symptoms.

The black hairy tongue is a normal variant; the hair con-sists of elongated, filiform papillae on the dorsum. Thecolour varies from yellowish (2.62) to brown or black(2.63). The cause of a hairy tongue is often unknown butoccasionally may follow antibiotic therapy.

Leucoplakia with thick, white, adherent patches orstreaks on the tongue (2.64) is an important sign to recog-nize because of its significance as a premalignant condition.The patches have sharply defined edges, cannot bedenuded from the mucous membrane of the tongue, andlook like streaks of white paint (2.65).

Table 2.1 Examination of the tongue

Questions Possible answers/observationsNormal Coated, geographical, 'scrotal' tongue, blackvariants hairy, varicosities on the undersurface

('caviar' tongue)

Size Macroglossia, hemiatrophy, global atrophy

Shape Triangular, multilobed, square

Colour Red, bright red, pale, blue

Papillae Enlarged, absent (bald tongue)

Vessels Prominent, angiomas

Hydration Moist, dry, coated and furred

Movements Immobility, deviation, fasciculation

2.61Normal tongue

2.62Yellow, hairy tonguewith elongatedpapillae

2.63Black hairy tonguewith filiform,elongated papillae

2.64Sharply definedleucoplakia patches

2.65Leucoplakia withwell-defined whitepatches


80

Patients with acromegaly and myxoedema have fleshy,large tongues. In the former case, the protruded tonguemay fill the entire oral orifice (2.66). Primary amyloidosisis a well-known cause of macroglossia and in some casesthe tongue may be very large and multilobed owing toamyloid deposition (2.67). Similarly, other tumours cancause an irregular enlargement of the tongue.

A lower motor neurone lesion of the twelfth cranialnerve causes unilateral wasting of the tongue on theaffected side, where the mucous membrane is raised intofolds owing to the underlying muscular atrophy (2.68). Theprotruded tongue deviates to the side of the lesion (2.69)because of the unopposed action of the opposite genioglos-sus. The atrophied side is wrinkled and the median raphecurves with its concavity to the paralysed side. A unilaterallesion may be caused by syringomyelia, motor neuronedisease, tumours and fracture of the base of the skull.

The most common cause of bilateral wasting of thetongue is motor neurone disease. The tongue is reduced in

size and the mucous membrane of the dorsal surface isthrown into folds (2.70). The wasting may be asymmetricaland the protruded tongue will deviate to the worseaffected side (2.71). Fasciculations are usually present andare often best seen if the tongue is in a relaxed position inthe floor of the mouth.

Cyanosis, particularly a mild degree of blue discoloura-tion of the mucous membranes, is one of the most difficultsigns to recognize in clinical medicine. Nevertheless someclinicians can guess the arterial oxygen saturation to within5%, simply by looking at the tongue and the buccal mucousmembrane of a cyanosed patient, especially if it is a mildlyhypoxaemic subject. Any careful observer can acquire thisskill by comparing the abnormal with a normal tongue sideby side (2.72,2.73) for the first dozen or so observations.

An experienced clinician used to looking at the normaltongue should recognize easily the raw, beefy-red tongueassociated with a glucagonoma (2.74), or the red and com-paratively bald tongue of iron deficiency anaemia (2.75).

2.66Acromegaly: large,square tongue fittingthe oral cavity

2.67Primary amyloidosis:multilobular, largetongue with amyloiddeposits

2.68Right twelfth cranialnerve palsy withmucosal folds overan atrophied andshrunken tongue

2.69Right hypoglossalnerve palsy: thetongue deviates tothe side of theatrophy

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81

2.70Motor neuronedisease with globalatrophy of thetongue

2.71Motor neuronedisease with unequalatrophy

2.72Bluish-red, cyanosedtongue

2.73Normal tongue

2.74Glucagonomasyndrome: beefy, redtongue

2.75Iron deficiencyanaemia: baldtongue withatrophied papillaeand angularinflammation


82

Glossitis is not always very severe but there is usually somedegree of atrophy of the lingual papillae, often associatedwith angular stomatitis and facial pallor (2.76). Althoughiron and vitamin B12 deficiency states (2.77) are compar-atively commoner causes of a sore, red and smooth tongue,enquiry should also be extended to include a deficiency ofriboflavin, niacin, folic acid and pyridoxine. Sometimesanticancer treatment may produce a similar appearance. Adeficiency of more than one vitamin is much more likelyto cause glossitis and loss of papillae, as may be seen inpatients with malabsorption, pellagra, and scurvy causedby malnutrition in socially deprived patients (2.78).

In the Peutz-Jeghers syndrome, the freckle-like pig-mentation not only involves the lips (see 2.17) but it alsooften extends to the tongue (2.79).

Although punched-out lesions resembling aphthousulcers may be present on the tongue without any identifi-able cause, these may suggest the possibility of chronicinflammatory bowel disease (2.80) as the two are fre-quently associated.

In one subgroup of multiple endocrine neoplasia, MENtype lib, the tongue may have mucosal neuromas on itssurface (2.81).These small mucosal outgrowths may also bepresent on the lips and eyelids. The syndrome consists of a

2.76Iron deficiencyanaemia with baldtongue and angularstomatitis

2.77Iron and vitaminBl 2 deficiency:glossitis with angularstomatitis

2.78Undernutrition withmultiple vitamin andiron deficiency:bald, fiery tongue

2.79Peutz-Jegherssyndrome: mucosallentigines andpigmentation

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83

medullary carcinoma of the thyroid, mucosal neuromas, aMarfanoid habitus, and is sometimes associated with aphaeochromocytoma or a parathyroid adenoma. Apartfrom the mucosal lesions there may be a swelling in theneck or an operation scar of previous thyroidectomy forthe medullary carcinoma (2.82). Some patients also have aproximal myopathy and ganglioneuromatosis of the bowel.

Both the dorsal and ventral surfaces of the tongue

should be inspected carefully to look for the small telan-giectasia (2.83, 2.84) associated with the Osler-Weber-Rendu syndrome. Such a finding can help considerably ininvestigating a patient with an iron-deficiency anaemia ofundetermined cause.

In patients with superior vena caval obstruction, theundersurface of the tongue may show the presence ofmultiple angiomata and distension of the venules (2.85),

2.80Ulcerative colitis:punched outaphthous ulcers

2.81Multiple endocrineneoplasia type lib:mucosal neuromas

2.82Multiple endocrineneoplasia type lib.Note scar ofpreviousthyroidectomy

2.83Osler-Weber-Rendusyndrome: glossaltelangiectases

2.84Osler-Weber-Rendusyndrome:telangiectasia on theundersurface of thetongue

2.85Superior vena cavalobstruction: multipleangiomata due toprolonged, venousstasis


84

which resembles the 'caviar tongue' of some elderlypatients with varicosities on the undersurface. An isolated,single haemangioma may be seen on the dorsal surface ofthe tongue (2.86). Such swellings are bluish in colour andoften compressible.

Mucosal eruptions of the oropharynx occur in a varietyof mucocutaneous disorders and the mouth should alwaysbe examined whenever a skin lesion is seen. In some casesthe mucosal lesions may be the first to appear, as forexample in measles, pemphigus, Behc.et's syndrome, andpurpura.

Koplik's spots (see also p. 44) are not always easy to find.In a febrile child, the buccal mucosa should be inspectedcarefully with the help of a good light. During the prodro-mal stage of measles, these spots can be seen as small, 'salt-grain' white dots (2.87) or patches on the inside of thecheeks (see also 1.223).

Mucosal ulcers associated with severe erythema andhaemorrhagic exudation occur in the Stevens-Johnson

syndrome (2.88, 2.89). There is usually a positive drughistory (of, for example, sulphonamides, antibiotics, etc.)and erythematous and target lesions may be seen on theskin (see 1.189).

Viral infections such as herpes and Coxsackie may causeeruptions on the tongue (2.90).

The oral mucous membrane is often affected early inthe course of lichen planus with slightly raised, whitelesions usually in a characteristic lacy-pattern distribu-tion (2.91). A similar trabecular appearance is also seenon the inner surfaces of the cheeks (2.92). These lesionsare asymptomatic and easily missed but are none-theless very important for confirming the diagnosis,since the cutaneous lesions may sometimes resemblepsoriasis.

Recurrent, painful aphthous ulcers of the tongue (2.93)and buccal mucosa (2.94) are the hallmark of Behcet's syn-drome. The pharynx and palate are rarely involved. Apartfrom the recurrent oral and genital ulcers, the syndrome

2.86Haemangioma

2.87Measles: Koplik'sspots

2.88 and 2.89Stevens-Johnsonsyndrome: multiplemucosal ulcers witherythema

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85

frequently involves the eyes (e.g. recurrent hypopyon,iritis, iridocyclitis, chorioretinitis), the skin (e.g. erythemanodosum, thrombophlebitis), the joints, gastrointestinaltract, and the central nervous system (e.g. brainstem syn-dromes, confusional states).

Oral candidiasis, or thrush, is caused by Candida albi-cans, which is a normal commensal of the gastrointestinal

tract. The organism becomes invasive at the extremesof age, in immunocompromised patients, and in thosewhose microbial flora has been altered by disease or byantibiotic therapy. The typical lesions are adherent whitepatches on the tongue (2.95, 2.96) and buccal mucosa,and there is often associated angular stomatitis (2.97).The infection may also involve the urogenital area, the

2.90Coxsackie eruption:ulcers with inflamedmargins

2.91Oral lichen planus:confluent, whitepapules coalesced ina lacy pattern

2.92Buccal lichen planuswith a lacy pattern

2.93Behcet's syndrome:aphthous ulcers

2.94Behcet's syndrome:aphthous ulcers ofthe buccal mucosa

2.95Pseudomembranouscandidiasis (thrush)


86 oesophagus causing dysphagia, and the alimentary tractproducing intractable, and sometimes 'unexplained',diarrhoea.

Carcinoma of the tongue (2.98) may be easily missedbecause it is painless in the initial stages and usuallyoccurs on the edges or the undersurface of the tongue.Tertiary syphilis may occasionally involve the tonguecausing a gumma (2.99). This may prove very helpful when

there are unexplained symptoms referable to the liver orbones.

The palate and pharynxThe fauces and pharynx must be examined with the aidof a good light. A tongue depressor should be used to get

2.96Widespread coloniesof Candida witherythematous(atrophic) patches

2.97Candidiasis withangular cheilitis

2.98Painless ulcer(carcinoma) of thetongue

2.99A well-definedgummatous nodule

2.100Palatal purpura

2.101Aplastic anaemia: ablood blister withsurroundinghaemorrhagic spots

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87

an adequate view of the uvula, posterior wall of thepharynx and the tonsils. Some of the mucosal lesions men-tioned already also involve the palate and should belooked for.

Purpuric spots may be seen scattered on the mucousmembrane of the palate in any condition causing throm-bocytopenia. In some systemic disorders, such as rheuma-toid arthritis, the association may spring to mind if thesespots are seen, as in this patient with Felty's syndrome(2.100). Blood blisters with a few purpuric spots on thepalate (2.101) may be caused by heat burn or by traumafrom a fork or fishbone but their presence may also be animportant clue to an unsuspected acute leukaemia oraplastic anaemia. The two conditions are frequently asso-

ciated with small haematomas on the buccal mucosa(2.102) from trauma caused by the neighbouring teeth.

Streptococcal pharyngitis and diphtheria (rare today)cause an exudative pharyngitis with yellowish-whitepatches covering the tonsils and fauces. Sometimes theformer may herald infectious mononucleosis (2.103).

Nodular involvement of the pharynx (2.104) is sugges-tive of Wegener's granulomatosis, particularly when it isassociated with haematuria, vasculitis and/or pulmonaryinfiltrations.

Perforation of the palate is one of the legacies of con-genital syphilis and it may be seen in an adult (2.105) whomay have some of the other features of the disease (see1.323,1.324, 3.52, 3.53 and 11.52).

2.102A buccalhaematoma in apatient with acuteleukaemia

2.103Streptococcalexudativepharyngitis

2.104Wegener'sgranulomatosis:granulomatousnodules in the faucesand pharynx

2.105Perforation of thesoft palate


88

During the examination of the oropharynx (with thepatient saying 'Aah'), note should be taken of the shape ofthe palate and arch which may be narrow and high as inMarfan's syndrome (2.106).The teeth may be crowded andmaloccluded and there may be other associated skeletalstigmata (see 11.48,11.49; p. 225).

The usual central position of the uvula may be alteredby an injury to the tenth cranial nerve, which supplies themuscles of the palate. The tenth nerve, together with theninth and the eleventh cranial nerves which accompany it,may be injured as they exit through the jugular foramen.The uvula is drawn to the opposite side as in this patientwith a left-sided jugular foramen syndrome (2.107). Thereis an absent gag reflex on the affected side, impaired taste

over the posterior third of the tongue (ninth cranial nerve),and a weak and wasted sternomastoid muscle (eleventhcranial nerve).

The deviation of the uvula may not be obvious in its rest-ing position but it can be highlighted if the patient is askedto open the mouth as widely as possible and say 'Aah', as inthis patient with a left lateral medullary syndrome (2.108).This patient also had an ipsilateral Horner's syndrome anddiminished pain and temperature sensation on the face,signs of cerebellar dysfunction, and contralateral decreasedpain and temperature sensation on the trunk and limbs.

A neoplasm of the pharynx is easy to detect in anadvanced stage when it also involves and distorts the softpalate (2.109).

2.106Marfan's syndrome:gothic arch

2.107Left tenth cranialnerve palsy. Notedeviation of theuvula to the right

2.108Left lateral medullarysyndrome: on saying'Aah' the palatecontracts on thehealthy (right) side

2.109A maraudingcarcinoma of thepharynx

389

THE EXTERNAL EYE

A generalist needs to have some knowledge and under-standing both of the conditions that cause local ocular dis-eases and of the ocular manifestations of various systemicdisorders. The initial inspection should focus on each sub-section of the external eye (3.1, 3.2) namely: the orbit, theeyebrows, the eyelashes, the eyelids; the two canthi wherethe lower and upper eyelids meet; the caruncle; the con-junctiva; the cornea; the iris; and the lens. A sequentialinspection of these areas completes a full assessment of theeyes.

The eyelids and orbitHerpes simplex and herpes zoster can both involve theeyes in susceptible subjects. In herpes simplex 1 infectionclusters of vesicles usually appear on the lower eyelidswhich, after rupture, leave erythematous spots (3.3). Inpatients with atopic eczema, the infection can take a moreaggressive form, eczema herpeticum, affecting both lidsand conjunctiva (3.4). The infection rapidly becomes wide-spread involving the lips and face (3.5), the extremities, the

3.1Normal eye

3.2Structures of the eye

3.3Herpes simplex:ruptured vesicles

3.4Eczema herpeticum:clusters of ruptured

3.5Herpes of the eyes,face and lips:confluent, ruptured,crusted vesicles


90

trunk and, in some cases, the central nervous system. Thecornea develops a superficial punctate keratitis with tiny,whitish plaques (3.6) that desquamate, form erosions andusually heal without scarring. The keratitis is associatedwith irritation, lacrimation and blepharospasm. Dendriticulceration is the hallmark of epithelial involvement. Theopaque cells of the initial lesion become arranged in adendritic, coarse punctate or stellate pattern (3.7). Healingis usually complete.

After the initial episode, the infected person becomes acarrier and periodic attacks may erupt on the lips, nose,eyelids, cornea and genitalia, particularly in associationwith intercurrent febrile illnesses. Sometimes infectionwith herpes simplex 2 may be acquired by sexual contact,resulting in a herpetic eruption on the genitalia and eyelidswith associated keratoconjunctivitis (3.8). The appear-ances are indistinguishable from herpes simplex 1 and thediagnosis can be made by obtaining an appropriate history.

In herpes zoster ophthalmicus rows of vesicles, orcrusted small ulcers and residual scabs, are scattered along

the course of one or more branches of the ophthalmic divi-sion of the fifth cranial nerve (3.9; see also 1.214, 1.215;p. 42). The surrounding skin becomes red and oedema-tous. The pain can be excruciating but sometimes ceasesafter the outbreak of the eruption. Unfortunately, inmany patients the pain persists for months and evenyears.

The eyelids may be affected like the rest of the body inneurofibromatosis and sometimes there may be a singleneuroma on one of the lids (3.10) with no other visibletumours. Such a nodule (3.11) has a firm feel unlike ahaemangioma. The nerves may be hypertrophied and feltas hard strings through the skin, and there may be cafe-au-lait spots on the trunk (see 7.37; p. 148). In some cases,the ciliary nerves are affected and sometimes there may bea glioma of the optic nerve.

Erysipelas of the face may involve the correspondingorbit (3.12) when both eyelids are red, shiny and swollen.The patient is unable to open fully the affected eyelids andoften there is associated fever and leucocytosis.

3.6Keratoconjunctivitis:well-defined, whitishplaques of punctatekeratitis

3.7Ulceration of thecornea with greyishdiscolouration andirregular margins

3.8Herpetickeratoconjunctivitis

3.9Herpes zoster,involving the eye,along thedistribution of theophthalmic branchof the fifth cranial

THE EXTERNAL EYE

91

The redness and swelling seen only on the eyelids is theresult of orbital cellulitis (3.13). The infection spreads mostfrequently from a nasal sinus but occasionally it may becaused by a retained foreign body or a staphylococcalsepticaemia. There is usually severe pain aggravated bymovement of the proptosed eye, the latter often obscuredby the swollen and chemosed eyelids. In some patientsthere is a retrobulbar neuritis, which may progress to opticatrophy. Panophthalmitis may develop, with the danger ofextension to the meninges and brain. Proptosis has beendiscussed earlier (p. 27) and the exophthalmos of Graves'disease has been discussed in Chapter 1 (p. 14).

The exophthalmos and reddish induration of the uppereyelids of histiocytosis X (Langerhans' cell granulomato-

sis) (3.14) may mimic orbital cellulitis but the former isof long-standing duration, predominantly affects malechildren and there are no local or systemic signs of infec-tion. In its multifocal form, there may be involvement ofthe bones (destructive lesions), hypothalamus (diabetesinsipidus), lungs (interstitial infiltrates leading to ahoneycomb appearance) and lymphoid and other tissues(hepatosplenomegaly, lymphadenopathy). A painless,nodular swelling within the orbit, without any signs ofinflammation, should alert the clinician to the possibilityof a tumour. Although the majority of neuroblastomasarise in the adrenal gland, presentation as proptosisor bruising around the eyelids (3.15) is sometimesseen.

3.10Neurofibromatosis: aneuroma in thelower eyelid

3.11A single neuroma ofthe lower eyelid:greyish-pink, firmnodule

3.12Erysipelas of theface and orbit:inflamed,oedematous skin

3.13Orbital cellulitis

3.14Langerhans' cellgranulomatosis


92

Orbital pigmentation, or raccoon eyes (3.16), causedby the discolouration of extravasated blood is an impor-tant sign of a fracture of the base of the skull. This isparticularly significant in an unconscious patient when nohistory may be available. There may also be subconjuncti-val haemorrhage but the movement of the eyeballs maynot be affected if the upper cranial nerves are spared(3.17).

A painless, bluish-red induration of the lower eyelid andface (3.18) can be caused by the granulomatous infiltrationof sarcoidosis and is referred to as lupuspernio.This processmay involve the face, nose and ears (see also 1.280-1.283).

The yellowish plaques on the lower eyelid of this patient(3.19) are caused by lipid deposition in the periorbital skincalled xanthelasmata. In just under one-half of the patientsthere is an associated hypercholesterolaemia.

3.15Neuroblastoma:bruised proptosis

3.16Raccoon eyes: bluishdiscolouration of theextravasated bloodafter a fracture ofthe anterior cranialfossa

3.17Intact eyemovements

3.18Lupus pernio:sarcoidgranulomatousinfiltration

3.19Xanthelasma

A stye is a localized abscess in an eyelash follicle causedby a staphylococcal infection (3.20). Recurrent infectionshould raise the suspicion of an underlying disorder suchas diabetes mellitus.

Retention of the secretion from a meibomian gland(modified sebaceous glands in the lids) together with aconcomitant infection results in a reddish swelling(chalazion), which, unlike a stye, points away from the lidmargin (3.21).

Lateral to the outer canthus of the eye, the hypertri-chosis of porphyria cutanea tarda (3.22) is easily missed. Itis usually only noticed when a clinician is specificallylooking for it, having first noticed some lesions on thehands (see 9.196-9.201; p. 195).

Blepharitis is a chronic inflammation of the lid marginsand may occur in two forms. In squamous blepharitis, smallwhite scales accumulate among the lashes, which fall outbut are replaced without distortion. This condition is often

THE EXTERNAL EYE

associated with seborrhoeic dermatitis of the scalp. Ulcer-ative blepharitis is an infective condition and, in its chronicform, may lead to conjunctivitis and permanent loss oflashes (3.23).

The conjunctivaThe most common observations about the conjunctiva areregarding its pallor or excessive redness. The latter obser-vation is often first made by patients or their relatives. Thecertainty about the presence of pallor, however, is com-promised by the transparency of the conjunctiva, whichimparts extra shine to the blood vessels even when theycontain less than the normal level of haemoglobin. Thebest area to look for pallor is in the conjunctival fornix,which is the guttering between the palpebral and bulbarparts. Here a fold of conjunctiva can be raised by pulling

3.20Stye in the upper lid

3.21Chalazion: swollenand inflamedmeibomian gland

3.22Porphyria cutaneatarda: increasedhairiness at the outercanthus

3.23Chronic blepharitiswith loss ofeyelashes


94

down the lower lid (3.24). The guttering looks unambigu-ously pale compared with the vascular tarsal rim of theconjunctiva.

Often the pallor is first suspected by looking at the face,as can be seen in this patient with an iron deficiencyanaemia and an unrelated goitre (3.25). However, facialappearances are influenced by the ambient temperature,the normal colour of the patient, and by the associatedcutaneous and systemic disorders. Many elderly patients

look paler than can be justified by their haemoglobinlevels. The conjunctival fornix is a more reliable place as itis almost always pale in patients with anaemia (3.26) andlow-output states.

The red eye is caused by chronic or recurrent congestionof the conjunctiva and may be the result of either constantexposure to a dusty environment or of heat, smoke, toxicfumes and other allergens. Often the conjunctiva looksnormal until the lower fornix is exposed but, in some cases,

3.24Clinical anaemia.Note the pallor ofthe fornix againstthe reddish tarsal

3.25Facial pallor

3.26Pallor of the faceand conjunctivalfornix

3.27Congestedconjunctiva

3.28Allergic conjunctivitisand contactdermatitis

3.29Vernal conjunctivitis

THE EXTERNAL EYE

95

the bulbar conjunctiva also looks congested (3.27). Someallergic conditions such as hay fever are always associatedwith congestion of the conjunctiva and increased waterysecretions. Contact with allergens, such as plant productsat home or chemical irritants at work, can produce a floridreaction involving the conjunctiva as well as the lids(3.28).

Spring catarrh (vernal conjunctivitis) is a recurrentbilateral conjunctivitis (3.29) occurring with the onset ofhot weather in summer time and affects mainly youngpeople, usually boys. The patients experience burning,itching, lacrimation and some degree of photophobia.

Mucopurulent conjunctivitis can be caused by severalorganisms producing an intense reaction with photopho-bia and a purulent discharge. It is usually associated withan infection of the cornea and eyelids with chemosis. Aparticularly severe form of purulent conjunctivitis canoccur in infants during the first few days of their life(ophthalmia neonatorum) (3.30) after having contractedthe infection (usually gonococcal) during birth. However,this condition is not so common these days.

The commonest cause worldwide of conjunctivitis

leading to blindness is trachoma. It is endemic in centraland eastern Europe, Asia, north and central Africa, centraland many areas of South America. In western countries,infection of the eyes and genital tract by Chlamydia tra-chomatis is spread mostly by sexual transmission.

The disease usually starts insidiously, first affecting theupper palpebral conjunctiva, which appears congested, redand velvety and then the characteristic trachoma folliclesdevelop (3.31). The follicles have a diameter of up to 5 mmand characteristically appear in rows on the upper fornix,although they are also found on the lower conjunctiva andon the caruncle. As the disease advances, trachomatouspannus develops as a lymphoid infiltration (3.32) with vas-cularization towards the upper margin of the cornea (3.33).Gradually both the haziness and vascularization at theupper half of the cornea spread downwards and indolentcorneal ulcers develop, starting at the advancing edge ofthe pannus.

In the absence of secondary infection, trachoma mayremain a very mild disease causing few symptoms.However, the recurrent follicular process causes cicatriza-tion of the lids, corneal vascularization and ulcera-

3.30Ophthalmianeonatorum withpurulent discharge

3.31Trachoma follicles inthe inverted upperlid

3.32Trachomatous.pannus

3.33Trachoma:vascularization ofthe conjunctivaencroaching on theupper margin of thecornea


96

tion leading to opacification of the cornea and blindness(3.34).

A pterygium appears as a triangular, vascularizedgrowth advancing from the conjunctiva to the cornea andusually arising from the inner canthus but may alsoencroach from the outer canthus (3.35). It extends gradu-ally across the cornea but does not cross the midline. Thecondition is commoner in hot, sunny and dusty climates.

A pinguecula is a yellowish-white deposit on the bulbarconjunctiva adjacent to the limbus but it does not encroachonto the cornea. It is commoner than pterygium and notconfined to hot countries. In Gaucher's disease, yellowishdeposits may be present on either side of the cornea (3.36)in both eyes.

Vitamin A is an integral component of light-sensitive

proteins in retinal rod and cone cells. Its deficiency causesfollicular hyperkeratosis and night blindness. Severevitamin A deficiency, as a result of chronic, uncorrectedmalabsorption or prolonged undernutrition, causes con-junctival xerosis, indicated by the presence of Bitot's spots(3.37), degeneration of the cornea (keratomalacia), retinaldysfunction and permanent blindness.

The inspection of the conjunctiva may yield critical andpathognomonic signs in some cases of septicaemia. Forexample, the discovery of petechial haemorrhages on thebulbar conjunctiva in this febrile patient (3.38) with a

"This sign was detected by a medical student on a ward round. Thepatient had inexorable malabsorption from an ileojejunal bypass, whichhad been performed for her gross obesity.

3.34'Burnt out' trachoma

3.35Pterygium

3.36Gaucher's diseasewith yellowishglycolipid deposits

3.37Bitot spot: focal areaof conjunctivalxerosis with a foamyappearance*

3.38Petechialhaemorrhage on thebulbar conjunctiva

3.39Infective endocarditis:petechialhaemorrhage

headache reinforced the clinical impression of a meningo-coccal meningitis. Similarly, the presence oipetechiae on theconjunctival fornix in this patient (3.39) with a pyrexia ofundetermined cause suggested the diagnosis of infectiveendocarditis. Both these patients were treated appropriatelybefore the confirmatory evidence had become available.

Spontaneous subconjunctival haemorrhages (3.40) arethe result of the rupture of small vessels from increasedintravascular pressure, during the explosive and repetitivebouts of coughing associated with whooping cough and inpatients with hypertension. These haemorrhages also occurin patients with a blood dyscrasia such as aplastic anaemiaand thrombocytopenia. The appearance of subconjuncti-val haemorrhages in a patient with metastatic carcinoma(3.41) may suggest medullary infiltration by neoplasticcells (leucoerythroblastic anaemia).

The corneaIn addition to a general look at the conjunctiva and corneafor any obvious abnormality, the cornea should be exam-ined specifically through the plus lenses of an ophthalmo-scope for the structural detail of an inflammatory process,or if a specific lesion such as band keratopathy orKayser-Fleischer rings is suspected. Sometimes a slit-lampexamination may be required; this is often undertaken byan ophthalmologist.

THE EXTERNAL EYE

Injuries and acute infections of the cornea (exogenousor secondary to conjunctival infections) lie in the domainof the ophthalmologist, since prompt treatment is neces-sary to relieve distress and to prevent serious sequelae.However, any doctor in the emergency room of a hospital,or a general practitioner, may be the first to see a patientwith a corneal injury or infection. Doctors who have notspecialized in eye diseases should familiarize themselveswith the appearance of some of the common cornealdiseases. Furthermore, some abnormal corneal signs arecharacteristic of some systemic disorders (e.g. bandkeratopathy, arcus juvenilis, etc.).

Good history-taking is the single most helpful steptowards making a sensible assessment of a corneal disease.This is illustrated by the story of this patient who presentedto his doctor with a painful, red right eye (3.42). He usedcontact lenses and took care to wash them regularly in thesaline solution used for this purpose. He complained ofpain and could not fully open the right eye. A close lookat the cornea showed an ulcer on the upper half with awhitish appearance (3.43) caused by the ensuing lymphoidcell infiltration. As in this case, the washing solution can bethe source of the ubiquitous Acanthamoeba, which cancause keratitis with devastating results unless diagnosedand treated early.

Corneal ulcers are exquisitely painful and not difficult todiagnose so long as the accompanying blepharospasm isgently overcome, and the lids are separated to reveal the

97

3.40Subconjunctivalhaemorrhage

3.41Unilateral proptosisand subconjunctivalhaemorrhage

3.42Acanthamoebakeratoconjunctivitis

3.43Corneal ulcer


98

ulcerated cornea (3.44, 3.45). Such patients should bereferred urgently to an ophthalmologist, since untreated orinadequately treated ulcers can lead to abscess formation(3.46) and loss of vision. Superficial ulcers heal withoutpermanent damage but deeper ones tend to leave a scar(3.47).

Band keratopathy (3.48) starts as a grey patch spreadingfrom the pupillary margin towards the periphery but oftenremains sharply marginated from the limbus. It is causedby a deposition of calcium salts in the subepithelial spaceand anterior part of the Bowman's layer. The appearanceis characteristically associated with hypercalcaemia butmay be the result of chronic iridocyclitis in children; it canalso occur spontaneously in the elderly.

Kayser-Fleischer ring may be seen as a yellowish-brown

deposit, due to copper overload, on the limbus at the upperand lower poles of the eye (3.49) in Wilson's disease. Therings are always present in association with the neurologi-cal involvement but may be difficult to see in the earlystages except with slit-lamp examination. This is the reasonwhy Wilson, astute clinician though he was, did not seethem when he first described the disease.

The cornea may be involved secondary to inflammationin the neighbouring sclera - known as sclerosing keratitis.An opacity develops at the margin of the cornea near theaffected sclera (3.50). The opacity is caused by lipid depo-sition and lymphoid cell infiltration. It is tongue-shapedwith the rounded apex towards the centre of the cornea(3.51). It can become intractable, causing discomfort in theeyes, but there is usually no ulceration, unlike an infective

3.44Corned ulcer withearly abscessformation

3.45Corneal ulcer withassociatedconjunctivitis

3.46Corneal abscess

3.47Corneal scar

3.48Band keratopathy:grey discolourationspreading radiallytowards the limbus

3.49Kayser-Fleischerring: a yellowish-brown thin band ofcopper deposit atthe upper and lowerlimbus

THE EXTERNAL EYE

99

process which, if unchecked, can cause opacification of theentire cornea.

Interstitial keratitis from inherited syphilis most com-monly affects children in their first two decades althoughdelayed infection may occur over the age of 30 years. Theinflammation tends to be unilateral and may be precipitatedby an injury to the eye. The patient complains of irritationin the affected eye and there is usually some ciliary conges-tion, with one or more hazy patches appearing in the deeplayers of the cornea near the margin (3.52). Gradually thehaziness spreads and the whole cornea looks lustreless anddull, giving a ground-glass appearance (3.53). A closer lookshows the underlying vascularization with radiating, brush-like vessels likened to a salmon-patch appearance.

Arcus senilis is an annular infiltration of lipid in theperipheral rim of the cornea (3.54). It is an ageing processand usually occurs in the sixth or seventh decade. It startsas a crescentic grey-white line at the upper (3.55) or lowermargin of the cornea. It gradually spreads around thewhole cornea as an annular ring (3.56), leaving a line ofclear cornea between it and the limbus. Its importance liesin its association with hypercholesterolaemia and diabetesmellitus when it appears under the age of 40 years. Evenin younger subjects an arcus may be present without anycause but the serum cholesterol should always be meas-ured. Some of these patients may have familial hypercho-lesterolaemia, in which case other family members willalso need to be screened.

3.50Sclerosing keratitis:tongue-shapedlipid-lymphoid celldeposit advancingfrom the limbus

3.51Sclerosing keratitis:a yellowish-whitelipid and lymphoidcell deposit

3.52Interstitial (early)keratitis: hazy nasalcornea withassociated ciliaryinjection

3.53Late interstitialkeratitis. Note theunderlying 'salmon-patch' appearance

3.54Arcus senilis

3.55Start of the arcus ina younger subjectwith diabetesmellitus


100

The uveal tractThe uveal tract comprises the iris, ciliary body and thechoroid. The choroid forms the posterior part of the tractand will be considered in the following section. Iritis oriridocyclitis is the term applied to inflammation affectingthe anterior portion of the uveal tract resulting in a char-acteristic clinical picture.

The causes are as follows:

• Exogenous infection from perforating injuries;• Secondary infection from the cornea, sclera or retina;• Endogenous infection (e.g. tuberculosis, gonorrhoea,

syphilis, brucellosis, viral, mycotic and protozoalinfections);

• Systemic diseases (e.g. rheumatoid disease, Still'sdisease, systemic lupus erythematosus, Wegener's,

sarcoidosis, ankylosing spondylitis, Reiter's disease,Behcet's syndrome, relapsing polychondritis, etc.).

Although there are many causes of iritis, the grossappearance of the eye does not differ very much from onecondition to another. Severe pain, photophobia andcircumcorneal congestion (ciliary injection) (3.57) withnumerous white cells, aggregating into white dots, ofteninferiorly, on the cornea (keraticprecipitates) (3.58) are theprincipal features of iritis. The iris becomes blurred andloses its distinctive radial appearance ('muddy iris').

Leakage of protein from the dilated vessels in the irismay cause it to adhere to the cornea (anterior synechiae)or to the lens (posterior synechiae). Excessive accumula-tion of the white blood cells may form a hypopyon, whichis seen as a collection of pus in the anterior chamber (3.59).In chronic anterior uveitis, neovasularization of the iris(rubeosis iridis) may develop, together with posterior

3.56Complete annulararcus juvenilis. Noteits separation fromthe limbus

3.57Iritis with ciliaryinjection

3.58Keratic precipitates:white dots on theinferior pupillarycornea

3.59Hypopyon: acollection of pus atthe bottom of theanterior chamber

3.60Rubeosis iridis: areddish ring aroundthe pupillarymargins of the iriswith ciliary injectionof chronic anterioruveitis

3.61Chronic anterioruveitis with lustrelesslens (treated withatropine)

THE EXTERNAL EYE

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synechiae (3.60). In untreated cases, the pupil is constrictedand the lens becomes less clear, as in this patient withankylosing spondylitis (3.61). Sometimes it may progressto cataract formation (3.62).

Glaucoma is a well-known complication of iridocyclitis.It should be distinguished from iritis as the treatment ofthe latter (with atropine) is contraindicated in the former.In acute glaucoma, the onset is often sudden with severepain, the pupil is large and either circular (3.63) or oval(3.64), there is corneal oedema and the intraocular pres-sure is high. Ciliary injection is common to both and thetension may be high in iritis, particularly in the presence ofsynechiae.

The diagnosis of iritis is not complete unless the under-lying condition has been uncovered. This may be straight-forward when a patient known to have a disorder suchas ankylosing spondylitis develops iritis (3.65, see 3.61);however, in many cases an aetiological diagnosis remains

unclear even after exhaustive investigation. In both theexamples shown, the pupil is dilated because of treatmentwith atropine since iritis is often associated with aconstricted pupil.

The neurological pupillary abnormalities have alreadybeen discussed in Chapter 1 (p. 28).

A congenital coloboma is caused by a defective closureof the embryonic cleft. It occurs in the lower part of theiris (typical coloboma) extending from the pupil outwards(3.66). This can offer useful circumstantial evidence insupport of a coexisting congenital disease. Figure 3.66 wasobtained from a patient with Klinefelter's syndrome.

Melanoma of the iris (3.67) usually presents as a solitarynodule. It may, however, be difficult to distinguish from abenign naevus. The features that should arouse suspicionare an associated distortion of the iris, neovascularization,pupillary abnormalities, localized lens opacification and ahigh intraocular pressure.

3.62'Burnt out' chronicanterior uveitis withcataract formation

3.63Acute congestiveglaucoma withciliary injection

3.64Acute glaucoma:large, somewhatoval pupil

3.65Iritis on the rightside (treated withatropine)

3.66Congenitalcoloboma. Note thetriangular shapedgap in the iris

3.67Melanoma of the iris


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The sclera

The sclera should be examined specifically for its colourand for the presence of episcleritis or scleritis.

The normal colour of the sclera is white, which aids thedetection of any discolouration to a yellowish or bluishtinge. It is preferable to examine the sclera in natural lightfor the presence of jaundice (3.68).

The sclera is bluish in babies but a more pronouncedblue colour is seen in osteogenesis imperfecta (3.69). Thismay be seen in several members of the same family, as themode of transmission in most forms is recessive. Thesclerotics retain their blue colour throughout life, althoughin adults it is less pronounced than in children (3.70). In

osteogenesis imperfecta, the sclera and cornea are verythin and the uveal pigment shines through to produce theblue colouration.

Episcleritis is a common, self-limiting and frequentlyrecurring disorder that typically affects young adults. It issometimes associated with a systemic disease (e.g. rheuma-toid arthritis, Crohn's disease, etc.). It may be either simpleor nodular when there is usually a circumscribed nodule,1-4 mm in diameter and approximately 2-4 mm from thelimbus. The lesion is traversed by the deeper episcleralvessels giving it a purplish hue (3.71). It is painless andfrequently involves both eyes (3.72).

Scleritis is less common, affects the older age groups andfavours women over men. It is often painful and occurs inassociation with connective tissue diseases and herpes

3.68Deep yellowdiscolouration ofsclera

3.69Blue sclerae

3.70Marked blue-tingedsclerae

3.71Episcleritis: a reddishnodule, 2mm indiameter

3.72Bilateral episcleritiswith increasedvascularity

3.73Scleromalaciaperforans: thenecrotic patchreveals theunderlying dark

THE EXTERNAL EYE

103

zoster. One or more nodules appear and the area is lesscircumscribed than episcleritis. It may even extend aroundthe cornea to form an annular scleritis. The essential dif-ference between episcleritis and scleritis is that the latteris painful and also involves the cornea and the uveal tract.The involvement of the cornea may persist and become achronic sclerosing keratitis (p. 98).

Scleromalacia perforans (3.73) typically occurs infemales with long-standing seropositive rheumatoidarthritis. The condition is asymptomatic and starts as a yel-lowish necrotic patch gradually exposing the underlyinguvea.

The lensOpacification of the lens (cataract) with a steady declinein vision may bring a patient to their doctor. Senilecataracts develop in people over the age of 60 years, butthe process may appear under the age of 50 years becauseof a systemic disorder. The causes of acquired cataracts inthe young are as follows:

• Ocular diseases (e.g. iridocyclitis, choroiditis, highmyopia, retinal dystrophy or detachment);

• Genetic/inborn causes (e.g. mongolism, galactosaemia,cretinism, myotonic dystrophy);

• Metabolic disorders (e.g. diabetes mellitus,hypoparathyroidism);

• Skin diseases (e.g. atopic eczema, scleroderma,poikiloderma vasculare atrophicus, keratosisfollicularis, etc.);

• Trauma (e.g. concussion, perforating wounds);• Miscellaneous causes (e.g. heat (infrared), irradiation,

electric discharge).

A mature cataract is usually easy to see (3.74) and allthat is required is a good source of light. However, if thecataract is immature and the opacity does not fill the entirepupil, or if the opacities lie in the centre or in the poste-rior capsule, the cataract may not be easily visible to theunaided eye.

All forms of cataract can be seen with the help of anophthalmoscope. With its light on the eye, the observershould approach from a distance of approximately 30cm(12 inches) and gradually move nearer the eye. A red reflexof the vascular retina will be seen at the pupil (3.75) if thepath of the light to the retina is not obstructed by anopaque lens. The red reflex is absent if the lens is catarac-tous (3.76, 3.77).

3.74Cataract

3.75Red retinal reflexvisible through theclear lens

3.76Absent red reflex:cataractous lens

3.77Cataractous lens

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4105

THE OPTIC FUNDUS

The examination of the optic fundus with the aid of a suit-able ophthalmoscope is important for three main reasons.First, the fundus is an extension of the brain that can beseen directly and, therefore, provides information aboutmany of the disorders of the central nervous system.Second, the fundus is the only area where the blood vesselscan be seen, and one can get some idea about the state ofthe vasculature in other organs in conditions such asatherosclerosis and hypertension. Third, the optic fundusmay be involved in a systemic disorder (e.g. bacterial endo-carditis, AIDS, sarcoidosis, etc.) and may provide criticaldiagnostic clues. For all these reasons it is important to takecare to obtain fundal views under optimal conditions.

Since access to the optic fundus is through the pupillaryaperture, it is self-evident that this path should be widenedas much as possible. This can be achieved by placing thepatient in a dark room for a few minutes, or by dilating the

pupils with a mydriatic such as the short-acting (approxi-mately 3h) tropicamide. Patients known or suspected ofhaving glaucoma, and those who have had eye surgery inthe past, should not be exposed to a mydriatic. Before theinstillation of these drops, the patient should be warnedabout the immediate sting and of photophobia in the sun-shine, both of which are caused by the tropicamide. Careshould be taken to instil only one or two drops on the lowereyelid (4.1) and not directly on the cornea, since this causespain and blepharospasm.

Any of the conventional ophthalmoscopes (4.2) with arange of lenses from +20 (4.3) to -20 dioptres (4.4) is sat-isfactory for viewing the fundus and the structures leadingto it. In a severely myopic patient, the fundus is best viewedwith the patient wearing their glasses. The fundus shouldbe examined methodically, starting from the optic disc,tracing the vessels emerging from it into the four quad-

4.1Instilling a drop oftropicamide on theeverted lower eyelid

4.2A series of availableophthalmoscopes

4.3Set at +20 dioptrelens

4.4Set at -20 dioptrelens


106

rants, followed by the macula, which will come into viewwhen the patient looks at the light of the ophthalmoscope.

The normal fundusThe colour of a normal Caucasian fundus varies fromorange to vermilion (4.5), that of a dark Asian person maybe yellowish-grey (4.6) or coffee-brown, and that of anAfrican subject tends to be chocolate-brown, owing to thecombined colour of the pigmented epithelium and theunderlying vessels.

The optic disc is pale red with a yellowish tint. It isusually circular (4.7) or vertically oval. The relative pallor

of the disc is largely the result of the reflection of light fromthe myelin sheaths of the optic nerve. In most normal fundithe disc has a funnel-shaped depression (known as phy-siological cupping) at its centre from which the retinalvessels seem to emerge. In chronic glaucoma this funnel isdeep (glaucomatous cupping) and the emerging vesselsappear to bend sharply at its edge (4.8).

The retinal vessels form four groups to supply the fourquadrants of the fundus (4.9). These four principal divi-sions of the retinal vessels follow a sinuous course anddivide dichotomously as they proceed to their respectivequadrants (4.10). From the superior and inferior temporalvessels, small branches pass towards the macula where theyterminate in fine twigs around the margin of the macular

4.5A normal Caucasianfundus

4.6A yellowish-brownfundus of an Asiansubject

4.7Yellowish-pale opticdisc

4.8Glaucomatouscupping: sharplyangulated emergingvessels

4.9Retinal vesselsdistributed to fourquadrants

4.10Branching vessels

THE OPTIC FUNDUS

107

depression. They stop short of the avascular fovea (4.11),which gets its red colour, and oxygen, from the underlyingchoroidal vessels. The ophthalmoscopic white axial reflex,which runs along the centre of each vessel, is caused by thesurface of the blood column and the vessel wall.

The macula lies at approximately 1-1.5 disc widths fromthe temporal border of the optic disc. It is a horizontallyoval depression recognizable by the contrast of its redcolour with that of the paler surrounding fundus (4.11,4.12). At the centre of the macula lies a smaller depressioncalled the fovea (4.13); this is a very thin part of the retinaand allows the brighter red colour of the underlyingchoroidal circulation to shine through. This is the normalfoveal reflex.

The abnormal fundus

The optic discThe shape, width and depth of the physiological cup, themargin and the colour of the disc, together with the stateof the vessels, should all be scrutinized carefully for evi-dence of disease. In simple, or primary, optic atrophy (frominjury, ischaemia or toxic damage to the optic nerve) thedisc is pale with sharply denned borders and a shallowphysiological cup (4.14). Sometimes the pallor is not verystriking unless a comparison is made with a normal fundus(4.15). In advanced cases, there is marked narrowing of the

4.11Vascular branchesterminating aroundthe darker avascularmacula

4.12The bright-redmacula lateral to theyellowish-pale disc

4.13The red fovealreflex: the thinavascular foveareflects underlyingchoroidal vascularity

4.14Optic atrophy with apale, shallowphysiological cup

4.15Normal and paleoptic discs

4.16Optic atrophy withpale disc and thin


108

retinal vessels as in this patient with bilateral optic atrophy(4.16, 4.17), who was found to have a large pituitarytumour compressing the optic chiasma. In glaucomatousoptic atrophy, the cup is enlarged and occupies a largerpart of the disc. Its margin shows an abrupt step down fromthe retinal level and the emerging vessels appear to bendsharply outwards (4.18).

Papilloedema, or a noninflammatory oedema of the opticnerve head, is an important diagnostic sign of many sys-temic, intracranial and orbital disorders. The earliest

changes are a blurring of the disc margin, hyperaemia andswelling of the papilla (4.19). These changes start at theperiphery of the disc leaving the central cup well-preserveduntil late on in the disease (4.20). As the intracranial pres-sure remains elevated the cup fills up, the disc becomeshyperaemic with dilated capillaries and the margin becomescompletely obliterated (4.21). There is venous dilatationand the surrounding retina becomes involved with theappearance of soft, white patches. At this stage, clinicalexamination often reveals enlargement of the blind spot.

4.17Optic atrophy withpale disc andattenuated vessels

4.18Glaucomatous opticatrophy: sharplyangulated vesselsand pale disc

4.19Papilloedema:swollen, hyperaemicdisc with blurredmargins

4.20The pale central coreof the discsurrounded byhyperaemia

4.21Advancedpapilloedema withcongestion andoedema of the disc

4.22Advancedpapilloedema:tortuous andcongested veins withoedema

THE OPTIC FUNDUS

109

In many of these well-established cases there are severalfine wrinkles in the retina just adjacent to the disc(4.20, 4.21). The veins become tortuous with a darkerblood column near the disc and circumferential folds,caused by spacing of the nerve fibres and overfilling of thecapillaries, that radiate from the optic head (4.22, 4.23).Cotton wool spots and haemorrhages appear in most cases(4.24).

Flame-shaped retinal haemorrhages may extendfor several millimetres around the disc (4.25) and deeplyplaced linear exudates radiate from the macula, the

so-called macular fan (4.26). These changes and the asso-ciation of papilloedema with multiple exudates and haem-orrhages (4.27) are often, but not always, suggestive ofaccelerated hypertension. An additional distinguishingfeature of papilloedema caused by accelerated hyperten-sion is that the papilla, and the surrounding retinal vessels,are obscured by the widespread presence of the oedemafluid. This ophthalmoscopic appearance contrasts well withthat of an intracranial tumour (4.21-4.23) in which theswollen optic head, as well as the retinal vessels, can beseen clearly.

4.23Papilloedema withcompletely obscureddisc. Note tortuousveins with darkblood columns

4.24Papilloedema withexudates andhaemorrhages

4.25Papilloedema withlinear, flame-shapedhaemorrhages andsoft exudates

4.26Papilloedema withthe macular fancaused by multiple,confluent exudates

4.27Papilloedema withhaemorrhages andexudates(acceleratedhypertension)


110

Myelinated nerve fibres are seen as a white patchspreading from the disc (4.28). The patch has a featheredmargin reflecting the course of the nerve fibres in theretina. The condition is present at birth, does not changeand causes no visual impairment.

A subhyaloid haemorrhage is often seen near thedisc (4.29). It has a characteristic, sharply defined, roundedappearance and, in the presence of an appropriate clinicalpicture, is pathognomonic of a subarachnoid haemorrhage.

The retinal vesselsThe blood vessels of the retina are involved in manydisorders that also affect other parts of the fundus, suchas diabetes mellitus, hypertension and optic atrophy.However, there are certain conditions that affect pre-dominantly (the hyperviscosity syndrome), or primarily(vascular occlusion), the retinal vessels; some of these willbe considered here.

In the hyperviscosity syndrome (caused by an excessof one or more constituents of blood, e.g. para-

proteinaemias, macroglobulinaemias, polycythaemia,leukaemias, etc.), the outstanding fundal appearance is ofan increased tortuosity and fullness of the retinal veins.These vessels have a marked axial light reflex facilitatedby a large column of blood within, and there are alsoengorged capillaries in the retina (4.30). The venousengorgement is often associated with prominence of theunderlying capillary network, micro-aneurysms and blothaemorrhages, as seen in this patient with multiplemyeloma (4.30, 4.31).

Occlusive disorders of the retinal circulation aredramatic events and often bring together a physician andan ophthalmologist. In central retinal artery occlusion(usually caused by an embolus from the heart or a largevessel), there is sudden loss of vision in one eye and, withinminutes, the retina looks pale with thin arteries and acherry-red spot at the macula (4.32). An interestingvariation of the ophthalmoscopic picture, seen in somecases, is the presence of the cilioretinal artery. This does notspring from the central retinal vessels and usually suppliesa small area at the temporal edge of the disc (4.33).The cherry-red spot reflects the underlying choroidal

4.28Myelinated nervefibres. Note theirregular, finelyfeathered margin

4.29Subhyaloidhaemorrhage with aclearly delineatedmargin

4.30The hyperviscositysyndr /ithdilated, congested

4.31Multiple myeloma:engorged veins andcapillaries

THE OPTIC FUNDUS 4111

circulation, which looks brighter in contrast with the neigh-bouring pale retina (4.32, 4.33). The occlusion maybe confined to a branch retinal vessel where the area sup-plied will be pale in comparison to the rest of the retina,as illustrated by Figure 4.34 where the inferior temporalartery is occluded. Sometimes, the offending obstructivelesion, such as a cholesterol embolus, may be concomitantwith an occluded arterial branch and a pale area distal toit (4.35).

Occlusion of the central retinal vein is much commonerthan that of the corresponding artery and is a major causeof blindness in the elderly.

Among the associated conditions are hypertension,chronic simple glaucoma (often undetected), diabetes mel-litus and a hyperviscosity state. In complete occlusion ofthe central vein, the fundus shows haemorrhages scatteredprodigiously, resembling wallpaper splashed with blood(4.36, 4.37). The haemorrhages tend to congregate aroundthe course of the venules and look like berries on a twigwhen the occlusion is incomplete (4.38) or when only abranch is involved (4.39).

The condition affects both males aged between 70 and80 years and females (usually younger). Patients complainof blurring of the vision in one eye on awakening. In most

4.32Central retinal arteryocclusion: paleretina withattenuated vesselsand a circular,cherry-red macula atthe upper pole

4.33Central retinal arteryocclusion. Note theintact tongue-shapedvascular area,supplied by thecilioretinal artery,lateral to the opticdisc

4.34Inferior temporalartery occlusion.Note the cherry-red

4.35A refractilecholesterol embolusoccluding theinferior branch ofthe superiortemporal artery

4.36Central retinal veinocclusion withscatteredhaemorrhages

4.37Central retinal veinocclusion: multiplehaemorrhages alongthe course ot veins


112

cases, the vision shows progressive deterioration and thedisc becomes pale (4.40). In patients with a partial occlu-sion, the prognosis is good.

Hypertensive retinopathy affects the vessels of theretina through a dual process of involutionary (or senile)sclerosis and reactive sclerosis caused by the increasedperipheral resistance. The ophthalmoscopic view of thevessels in elderly subjects (aged 60 years and over) showsthat the arteries are narrower, straighter, paler with areduced axial reflex, and that they branch more acutely

(4.41; cf. normal vessels in 4.10, 4.11). The veins are pro-portionately narrower with a less distinct axial reflex. Thefundus generally shows signs of ageing with colloid bodies,peripheral choroidal degeneration and loss of the normalcolour. The perifoveal arterioles become thin, straight andscanty. All these changes associated with advancing yearsare also seen in younger patients with sustained hyper-tension (4.42) and show a striking contrast with the fundalpicture of a normotensive subject (4.43).

Traditionally, these changes described above are classi-

4.38Haemorrhages alongthe course of theoccluded vein

4.39Occlusion of abranch of the centralretinal vein

4.40End-stage centralretinal vein occlusionwith optic atrophy

4.41Involutional sclerosisof the retinal vessels:thinner vessels withreduced axial reflex

4.42Hypertensive fundus(grade I)

4.43Normotensive fundus

THE OPTIC FUNDUS

fied as grade I hypertensive retinopathy. With persistenthypertension a phase of hyperplasia follows with calibrevariation, particularly at the arteriovenous crossings(grade II), where veins show tapering before and after thecrossing. This is known as Gunn's sign (4.44).

This so-called arteriovenous 'nipping' is not causedby the pressure of a rigid and hyperplastic artery onthe vein; rather, it can be explained by masking of thevein as it buries into the retina at the crossing, a lossof transparency in the retina, and by the associatedhyperplasia in the arterial wall. Sometimes, this conceal-ment of the vein, as it passes underneath the artery, isso complete that the vein looks as though it is 'cut in two'(4.45). In this form of Gunn's sign the venous blood

column terminates abruptly on both sides of the crossing;here the concealment is probably caused mainly by theloss of transparency in the hyperplastic arterial wall.At this stage there may also be associated flame-shapedhaemorrhages and hard exudates (grade III) (4.45).There are several variations at the arteriovenous crossings;it may be the vein that crosses the artery and the veinmay rise at this level and form a 'hump' over the artery(4.44 and 4.46).

Focal ischaemia, seen as soft exudates, and vascularleakage, showing as hard exudates and haemorrhages(grade III), are both ominous signs suggesting an acceler-ated phase of hypertension (4.45-4.48). Some degree ofoedema of the disc may be seen at this stage; however,

4.44Arteriovenousnipping (Gunn'ssign) where the mainbranches cross eachother

4.45Grade IIIhypertensiveretinopathy. Thevenous shadow islost where the arterycrosses it (arrow).Note thehaemorrhages andthe circinate exudatearound a blothaemorrhage

4.46Arteriovenouscrossings with thevein arching overthe artery in thesuperior region

4.47 and 4.48Grade IIIhypertensiveretinopathy withhaemorrhages


114

frank papilloedema (4.49,4.50) may occur with or withoutany of the other changes (grade IV).

Diabetes mellitus is by far the commonest disease thatcan affect any part of the eye and produces vascularchanges in the fundi of most patients within a few years ofdiagnosis. Venous dilatation is the earliest change (4.51),which may persist while microaneurysms (dots) and retinalhaemorrhages (blots) develop. These changes of dot andblot haemorrhages are collectively called background

retinopathy (4.52-4.56), which does not cause any visualimpairment unless a haemorrhage involves the macula.Patients with only background changes should have theirvisual acuity and fundi checked at least once a year.

Soft exudates are seen as fluffy, white spots with indis-tinct margins (4.57, 4.58) reflecting infarcted areas causedby the occlusion of arteriolar precapillaries. These occurearly in the course of the disease, particularly if the patientalso has hypertension. Patients with soft exudates should

4.49 and 4.50Grade IVhypertensiveretinopathy withpapilloedema,haemorrhages andexudates

4.51Diabetes mellitus:venous dilatation

4.52Microaneurysms

4.53Backgroundchanges:microaneurysms

4.54Dot and blothaemorrhages

THE OPTIC FUNDUS

be examined more frequently than once a year. If theexudate is near the macula, or if more than two exudatesappear, or if there is any visual deterioration, the patientshould be referred to an ophthalmologist.

Hard (serous) exudates are small, white or yellowish-white dots with well-defined margins scattered singly, inclusters (4.59), or in circinate rings (4.60). These remnantsof vascular leakage comprise glycoproteins, lipoproteinsand phospholipids, and are located within the outer molec-ular layer. The concentrated material initially fills the indi-vidual cystic spaces in that layer but gradually breaks down

the barriers between these spaces and forms compact,hard, waxy masses (4.61). Preretinal haemorrhageswith flat surfaces, which lie in a subhyaloid position in frontof the retina, can also be seen in this figure. These haem-orrhages are from new vessels, which lie hidden behindthem.

Patients with hard exudates should be monitored regu-larly for their visual acuity and the location and number ofthe exudates should be charted. They should be referredto an ophthalmologist if there is a deterioration in theirvision, if the exudates increase in number, if they form a

4.55 and 4.56Diabetes mellitus:dot and blothaemorrhages

4.57 and 4.58Diabetes mellitus:soft exudates(microinfarcts) withindistinct margins

4.59 and 4.60Diabetes mellitus:hard exudates. Notethe circinate ring atthe upper temporalpole


116

4.61Proliferativeretinopathy:confluent hardexudates andpreretinalhaemorrhages withsharply definedmargins

4.62Microaneurysms andhard exudatescoalescing incircinate rings

4.63 and 4.64Diabetes mellitus:hard exudatesforming circinaterings

4.65Confluent hardexudates in acircinate ring aroundthe macula

4.66Maculopathy withexudatesencroaching on tothe macula

4.67 and 4.68Maculopathy:exudates on andaround the macula

THE OPTIC FUNDUS

circinate ring around the fovea (4.62-4.65), or if theyencroach on to the macula (maculopathy) (4.66). Thecircinate exudate represents both the capillaropathy (i.e.increase in permeability, damage and leakage) and thereactive stage of the retinopathy in which macrophagesinvade to clear the exudate. The number of exudates is lessimportant than their location; even a small number ofexudates on the macula (4.67, 4.68) can cause markedvisual deterioration.

Maculopathy is best treated prophylactically by refer-ring for laser therapy those patients in whom the exudatesare near the macula and threatening to invade it (4.69).

Neovascularization is a common and dangerous mani-

festation of diabetic retinopathy and usually occurs afterthe reactive stage when there are hard and soft exudates,haemorrhages and venous dilatation (4.70). Serous exu-dates and haemorrhages precede new vessel formation inmost cases.

Hypoxia is the critical factor that stimulates new vesselgrowth. Arteriolar capillaropathy, as indicated by chronicleakage of plasma or blood, is often the initiating phe-nomenon of new vessel formation. A preproliferative stagecan be recognized when there are haemorrhages andvenous dilatation (4.70, 4.71), often with a beaded outline(4.72). In addition there may be soft exudates, arterialsheathing and venous reduplication.

4.69Incipientmaculopathy:exudates near themacula

4.70Venous dilatationwith beading (notea-v nipping), softand hard exudatesand haemorrhages(preproliferativeretinopathy}

4.71 and 4.72Preproliferativeretinopathy. Notecongested veins witha beaded outline

4.73 and 4.74Proliferativeretinopathy. Notemeshes of newvessels in the upperregions


118

Patients with preproliferative changes should bereferred to an ophthalmologist. Venous dilatation, evenwithout the presence of massive exudates, should beregarded with suspicion. Venous stasis from a diminishedarteriolar blood flow and capillaropathy can stimulate neo-vascularization, usually in the superior temporal quadrant(4.73). Once begun, the proliferative stage is usually pro-gressive and new vessels appear in various parts of theretina in an unpredictable manner (4.74, 4.75). Importantinformation regarding the microcirculation and new vessel

formation can be obtained using fluorescein angiography(4.76). Retinal photocoagulation can arrest the rapidprogression of neovascularization and subsequent loss ofvision. It leaves the fundus with laser scars and someremnants of the new vessels (4.77).

Retinitis proliferans (4.78) is a serious complication ofprogressive neovascularization. Leashes of vessels pro-trude into the vitreous followed by fibrosis (4.79),cicatricial contraction (4.80), retinal detachment andblindness.

4.75Proliferativeretinopathy withmasses of newvessels

4.76Fluoresceinangiogram revealinga mesh of newvessels medial to thedisc

4.77Neovascularizationwith laser scars

4.78Retinitis proliferans:leashes of newvessels bleeding intothe vitreous

4.79Fibrosing newvessels

4.80Cicatricialcontraction offibrosed new vesselsand retinaldetachment

THE OPTIC FUNDUS

119

The retina and maculaThe retina and the choroid are involved in a variety ofsystemic infections and, although the usual processes ofinflammation, reaction and atrophy may not vary muchfrom one condition to another, some appearances are quitedistinctive and helpful when making a specific diagnosis.

Most inflammatory changes in the choroid are ofendogenous origin (Table 4.1) but exogenous infectionmay be imported through a perforating injury or surgery.

Table 4.1 Causes of choroiditis/choroidoretinitis

BacterialRickettsialViralGranulomatousMycotic

Protozoa!NematodalMalignant

Tuberculosis, syphilis, leprosy, leptospirosisQ feverVariola, measles, vacciniaSarcoidosisHistoplasmosis, aspergillus,Candida, cryptococcosis,coccidioidomycosisToxoplasmosis, toxocaraOnchocerciasisRetinoblastoma

Choroiditis may also occur from an infection in the scleraand retina.

In diffuse choroiditis from any cause the choroid showsyellowish plaques of exudate with ill-defined margins andcrossed by the vessels of the retina, which is frequentlyoedematous (4.81). In acute cases, there may be blurringof vision resulting from the vitreous haze. Loss of visionwill result if the macula is involved. In chronic or 'burnt-out' forms there is clumping of pigment around the lesions,which themselves look white because of the presence ofscar tissue (4.82).

The pigmentation is not specific to any particular formand merely surrounds any lesion where the entire choroidand the retina may have been destroyed, exposing thewhite sclera (4.83). Scattered patches of pigmentation withwhitish lesions can be seen in old, diffuse choroidoretini-tis. A patch of complete destruction of the choroid andretina will show the sclera and its vessels, as seen in thefigure showing a case of sun choroiditis (4.84).

Toxoplasma and cytomegalovirus infection of the retinaoccur frequently in immunosuppressed patients (e.g. inAIDS, cytotoxic therapy, acute leukaemia, etc.). A singlelesion may be seen in the centre of the fundus, both in thecongenital and acquired forms of toxoplasmosis, and ofteninvolves the macula (4.85). As this heals, clumps of pig-mentation appear within and around it.

4.81Choroiditis:yellowish plaques ofexudates in thechoroid underlyingthe retinal vessels

4.82Chronic choroiditiswith pigmentation

4.83 and 4.84Choroidoretinitis: thedestruction of retinaand choroidsexposing sclera andits vessels

4.85Toxoplasmachoroidoretinitisinvolving the macula


120

Retinal infection with cytomegalovirus usually sparesthe choroid.

The initial white granular dots on the retina soonbecome confluent, forming yellowish-white necroticlesions. This is in close association with intraretinalhaemorrhages, simulating the distinctive 'scrambled eggand tomato-sauce' appearance (4.86).

Scattered whitish patches with retinal haemorrhages arehighly suggestive of cytomegalovirus infection (4.87), par-ticularly in patients with underlying AIDS. Figure 4.87 alsoshows the involvement of the macula with oedema andstreaks of exudates. The progression to complete loss ofvision is often disastrously rapid.

In the presumed ocular histoplasmosis syndrome thereare small pale foci of choroidoretinitis associated withpigmentation and surrounded by a rim of haemorrhage(4.88). These lesions are thought to be related to ahypersensitivity response to the products of Histoplasmacapsulatum.

In retinitis pigmentosa, large pigmented spots lookinglike bone corpuscles start in the periphery and graduallyencroach towards the centre of the fundus (4.89). Thechoroid becomes atrophied and tesselled. The visualdeterioration progresses inexorably, starting with loss oftemporal fields, leading to tunnel vision and eventually tocomplete blindness.

4.86 and 4.87CytomegalovirusreHnitis with necrosisof the retina andhaemorrhages

4.88Histoplasmachoroidoretinitis withconfluent exudatesand haemorrhagesaround a clump ofchoroidal pigment

4.89Retinitis pigmentosa

4.90Malignantmelanoma: ayellowish massunder the retinalvessels

4.91Malignantmelanoma afterlaser therapy

THE OPTIC FUNDUS

121

The commonest tumour arising from the choroid is amalignant melanoma. The ophthalmoscopic picture is vari-able but a rounded, yellowish, somewhat elevated, patchunder the retinal vessels should arouse suspicion of atumour (4.90). Figure 4.91 shows a melanoma that hasbeen subjected to laser therapy.

Angioid streaks, like the retinal vessels, radiate outwardsfrom the disc but they do not arise from the vessels. Theyare more deeply situated, may be dark grey or red in colourand are sometimes outlined on either side by a thin whiteline. Figure 4.92 is from a patient with the Ehlers-Danlossyndrome; it shows a greyish streak lying superiorly roundthe disc and another one radiating outwards at 1 o'clock,crossing under two superior temporal vessels. Figure 4.93is from a patient with pseudoxanthoma elasticum and it

shows a reddish angioid streak radiating at 1 o'clock out-wards to the periphery under the superior temporal vein.The triad of skin changes (p. 64), angioid streaks andvascular abnormalities is called the Groenblad-Strandbergsyndrome. In most cases the macula is affected and thismay seriously impair the visual acuity.

The fundus in patients with septicaemia may havecharacteristic round, oval or elliptical haemorrhages,with a pale centre (caused by a collection of lymphocytes)called Roth spots (4.94). In a patient with suspectedsubacute infective endocarditis the fundus should beexamined daily, since the discovery of a Roth spotcould be very helpful. Roth spots may also be found inpatients with haemolytic anaemias and in collagendiseases.

4.92Angioid streaks: agreyish, ill-definedstreak round the discsuperiorly and oneradiating outwardsat 1 o'clock

4.93Angioid streakradiating at 1o'clock, runningunder the superiortemporal vein

4.94Roth spots

4.95Senile maculardegeneration


122

Senile macular degeneration is a common cause of de-teriorating vision in the elderly. In the early stages theremay be pigmented stippling at the macula (4.95) with thelater appearance of faint, yellowish-white spots known ascolloid bodies (4.96). In most cases the condition is slowlyprogressive and haemorrhages followed by scars appear atthe macula.

Retinal detachment is usually heralded by complaints offlashes of light, snowstorm vision, dark spots or clouded

vision. In the acute state, the fundal view may be obscuredby a vitreous haze. In established cases, the detached areamay show whitish folds (4.97) and the overlying vesselsmay look dark and devoid of their axial reflex. Thechoroidal detail is obscured by the detachment and thelenses of the ophthalmoscope may have to be changed tobring different parts of the fundus into focus. The folds ofthe detached portion may look like crests and valleys andthe vessels are greatly attenuated (4.98, 4.99).

4.96Senile maculardegeneration:rounded, colloidbodies in the macula

4.97Retinal detachmentwith whitish folds inthe detached retina

4.98 and 4.99Retinal detachment:obscured choroidalfeatures, attenuatedvessels andprominent, yellowishretinal folds

5 THE EARS123

A complete and thorough examination of the ears is rarelyperformed by the average doctor, usually being left to thespecialist ENT surgeon. This is unfortunate as the ear mayoften reveal useful clinical information about systemic dis-orders (e.g. sarcoidosis, gout, porphyria, etc.) and infec-tions, and occasionally evidence of an early neoplasm maybe found.

The external ear (5.1,5.2) consists of the expanded pinna(auricle), and the external auditory meatus leading to thetympanic membrane. The lateral surface of the pinna isirregular with numerous depressions and ridges to whichvarious names have been assigned (5.2).

A diagonal crease may be seen in the ear lobe (5.3). Thisis referred to as Frank's sign and is associated withischaemic heart disease. This crease may not fully traversethe ear lobe or may only be superficial. There is a statisti-cal association between ear lobe creases and coronaryartery disease in various populations studied.

Congenital malformation or absence of all or part of theear is rare but clinically significant because of its associa-tion with deafness and facial asymmetry. A grossly abnor-mal external ear with an absent external auditory meatus(5.4) may be associated with some degree oihypognathism(5.5) resulting from the underdevelopment of the

5.1Normal external ear

5.2Structure of theexternal ear

5.3Frank's sign: adiagonal ear lobecrease(This sign wasincidentally identifiedby a postgraduatestudent in a patienton a neighbouringbed, during ateaching session.)

5.4 and 5.5Treacher Collinssyndrome: deformedexternal ear andmandibularhypoplasia


124

mandible, as in the Treacher Collins syndrome (see also1.334). The pinna may be almost completely absent andrepresented by a rudimentary bud (5.6) with major impli-cations for hearing (absent external auditory canal) andfacial appearance (5.7). This patient with severe conductivedeafness also had hypoplasia of the left mandible andmaxilla.

The ears are often exposed and therefore vulnerable tothe extremes of temperature. Patients living in cold cli-mates may get chilblains, while those exposed to the hotsun may develop solar keratosis, which can manifest as asmall papule (5.8) or as a hyperkeratotic warty nodule(5.9). Some of these can develop into squamous cellcarcinomata.

The ears should not be overlooked in patients with por-phyria cutanea tarda (5.10). The helix of the pinna is acommon site for gouty tophi (5.11), although these mayalso occur on the antihelix and on the medial surface ofthe pinna. The entire pinna should be palpated for thepresence of swellings. The reddish, papulonodular lesions

of sarcoidosis can also occur on the ears (5.12) and on theface, nose and forehead (5.13). Granulomatous indurationmay involve the entire pinna in this condition (lupuspernio) (5.14).

In fulminant meningococcaemia (associated with septi-caemic shock, hypotension and disseminated intravascularcoagulation), peripheral vasoconstriction and acralcyanosis may involve the extremities and the ears (5.15).With such overwhelming meningococcaemia this processis often irreversible, leading to gangrene of the ear (5.16).

Nodular infiltration of the skin with an erythematoushue may occur on the face and ears in leprosy (5.17).Similar lesions are also found on the elbows, buttocks andknees.

Otitis externa (5.18) is the most frequent disorderinvolving the external auditory meatus and often, as in thiscase, extends to the pinna. Many such patients have anatopic or eczematous background with accompanyingbacterial or even fungal superinfection. Figure 5.18 is anexample of herpes zoster recognizable by the vesicular

5.6 and 5.7Congenital absenceof ears

5.8Solar papule:pigmented papulearising on a sun-exposed area

5.9Hyperkeratotic,warty solar nodule

THE EARS

5.10Porphyria cutaneatarda: atrophic scars

5.11Gouty tophi

5.12Sarcoidosis:granulomatouspapules

5.13Sarcoid papules

5.14Lupus pernio

5.15 and 5.16Fulminantmen i ngococcaem iawith vasoconstrictionof the ear leading tonecrosis

5.17Leprosy:erythematousinfiltration in thehelix

5.18Otitis externa:herpes zoster


126

eruption. This patient also had an ipsilateral seventhcranial nerve palsy (Ramsay Hunt syndrome). Recurrentbacterial infections occur frequently in atopic individualsand in those who have impaired immunity, causing scarringand deformity of the pinna (5.19).

Various skin tumours such as keratoacanthoma (mol-luscum sebaceum) and squamous cell carcinoma some-times arise on the pinna. The former is less common, occursearlier (50-60 years of age), and characteristically arisesabruptly from the surface of the skin (5.20, 5.21). It

5.19Recurrent infectionswith atrophicdeformity of the ear

5.20Keratoacanthoma:erythematous, dome-shaped tumour witha central necroticscab

5.21Keratoacanthoma: aglistening nodulewith a central ulcer

5.22Squamous cellcarcinoma: anerythematous plaquewith haemorrhagicscabs

5.23A large, transparentcyst

5.24Hyaline fibromatosiswith fibromatousoutgrowths

5.25Au ri scope/otoscope

THE EARS

enlarges rapidly and then separates gradually, leaving apuckered scar. In contrast a squamous cell carcinoma(5.22) usually appears between the ages of 60 and 80 years,is commoner in males, and often arises on pre-existingsolar keratosis.

Cysts (5.23) and fibromata (5.24) may be found on thepinna as elsewhere on the body but, because of their dis-figuring appearance, the patient seeks help earlier than ifthe lesions were on the abdomen. In hyaline fibromatosis,outgrowths of fibrous tissue occur on the ears, face, handsand feet. They recur incessantly after excision and grow toenormous proportions (see also 1.327.)

After the external examination of the ear, the inner endof the external auditory canal and the tympanic membraneshould be inspected with the aid of an otoscope (5.25). Toobtain an adequate view of the tympanic membrane, thepinna is stretched gently and the otoscope is angled slightlydownwards and anteriorly to follow the curve of the canal(5.26).

The tympanic membrane (5.27, 5.28) lies obliquelyacross the end of the external canal, separating the exter-nal from the middle ear. The healthy eardrum has a cone-shaped light reflex with its apex near the handle of themalleus. The light is not usually reflected by a diseasedmembrane, although in some cases of otitis media witheffusion the reflex may not be totally lost. The most usefulfeature is the malleus, as the demarcation of its variousparts is lost in various disorders such as cholesteatoma. Thesuperior lateral process of the malleus appears rather likea knuckle in the top right-hand corner. The blushed seamis a normal feature as it does not extend onto the drum. Incontrast, Figure 5.29 is an example of early otitis media;the entire drum is bulging and hyperaemic, with dilatedvessels and an absent light reflex.

Figure 5.30 shows 'burnt-out' chronic otitis media witha posterior central perforation and dense sclerotic changewithin the rest of the pars tensa. As would be expected,there is no light reflex.

Anterior posterior malleolar ligaments

Pars f laccida

Anteriorsuperiorquadrant

Anterior

Cone ofreflected light

5.28

5.26Examining theexternal auditorycanal and tympanicmembrane

5.27The tympanicmembrane asviewed through anotoscope

5.28The detail of thetympanic membrane


128

Chronic middle-ear disease often involves thesurrounding bone (the tympanic ring, ossicles, mastoidair cells) and the walls of the attic, aditus andantrum. Erosion of these bony areas, together with thechronic inflammatory process, leads to the formationof a sac or cholesteatoma (5.31). In this particularcase, there is keratinization over the attic, and the whitemass visible over the posterosuperior quadrant is thefundus of the cholesteatoma sac descending into themesotympanium.

One important feature of a cholesteatoma is that it con-tains constituents of the skin; in other words there is 'skinin the wrong place'. A cholesteatoma may be congenital,primary (without antecedent infection) or secondary tomiddle-ear infection. Figure 5.32 is another example of a

cholesteatoma showing the presence of pus in the attic. Thedrum is also abnormal and bulging, with a whitish colourbetraying the massive cholesteatoma, originating in theattic. Its sac is occupying, and almost obliterating, theentire middle ear.

One of the characteristics of a cholesteatoma is an atticgranuloma (5.33). The pars tensa is intact and looks normalbut the fundus of the cholesteatoma sac can be seenextending down from the posterosuperior region, occupy-ing approximately two-thirds of the space behind thedrum. Figure 5.34 shows an atelectic, but intact, tympanicmembrane. There is evidence of previous infection but theeardrum has healed with some atrophic replacement of thedrum. There is an attic retraction pocket but this is of noclinical significance.

5.29Otitis media withhyperaemia of thetympanic membrane

5.30Perforated tympanicmembrane

5.31Cholesteatoma

5.32A largecholesteatomawith bulgingeardrum

5.33A largecholesteatomaextendingdownwards

5.34Atrophic, scarredeardrum

6 THE NECK129

The diagnostic problems and signs usually encountered inthe neck are as follows:

• Congenital (e.g. webbing, craniovertebral anomalies,thyroglossal cyst, sublingual dermoid, branchial cyst,cystic hygroma, cervical rib, laryngocoele, etc.);

• Lymph glands (e.g. lymphomas, infections,secondaries);

• Salivary glands (e.g. submandibular gland swelling,Mikulicz's syndrome);

• Thyroid gland (e.g. goitre, neoplasia);• Jugular veins (e.g. congestive cardiac failure, superior

vena caval obstruction, tricuspid incompetence);• Carotids (e.g. Corrigan's sign, de Musset's sign, kinked

carotid, absent/unequal pulses);• Cutaneous (e.g. herpes zoster, scleroderma, scars, etc.);• Muscular (e.g. muscular dystrophy/palsy).

Although any structure in the neck may be involved in adisease process, 95% of the abnormalities usually seen are

related to disorders of the thyroid gland, the veins, thecarotid arteries and the lymph nodes. This should be bornein mind while inspecting the neck for diagnostic clues. Con-genital legacies take the major share of the remaining 5%of the cervical abnormalities.

The shortness of the neck can be recognized by lookingat the distance between the ear lobules and the shoulder(6.1), then by comparing it with that of a normal subject ofthe same sex and height (6.2). A short neck is an importantfeature in many patients with gross obesity; the associatedsmall and narrow pharyngeal cavity collapses duringsleep, resulting in ineffectual thoracoabdominal movementswhich causes snoring, particularly when the patient sleepson his or her back (the sleep apnoea sysndrome). Recur-rent episodes of apnoea lead to chronic hypercapnia andhypoxaemia known as the Pickwickian syndrome (6.1). Onthe other hand, an excessively long, elongated neck suchas the one in Marfan's syndrome can be detected by thesame method of comparison (6.3).

6.1Pickwickiansyndrome: a shortneck and facialplethora

6.2Somewhat overweightsubject withhypothyroidism

6.3Marfan's syndrome.Note the long neckand a partial ptosisof the left eye due tolong-standingdislocation of the lensand myopia


130

6.4, 6.5 and 6.6Klippel-Feilsyndrome with ashort, webbed neck

6.7 and 6.8Klippel-Feilsyndrome: shortneck with low-set

6.9Thoracic scoliosis

THE NECK

131

In craniovertebral anomalies there is often a dispropor-tion between the clinical manifestations and the structuralderangement. Congenital fusion of the cervical vertebraeis the reason for the short neck (6.4) in the Klippel-Feilsyndrome. The appearance is very striking and the condi-tion can be diagnosed in early childhood (6.5, 6.6). Some-times the vertebrae are not only fused but also deficient innumber, thereby producing a very short neck with the earsnearly touching the shoulders (6.7, 6.8). Other vertebraemay also be involved and there may be an associated tho-racic scoliosis (6.9).

The presence of a cervical rib (a fibrous band or anenlarged seventh cervical transverse process) produces acomplex clinical picture (i.e. sensory, motor, vascular ormixed). Numbness and paraesthesiae usually occur alongthe ulnar border of the forearm and hand and, in somecases, there may be weakness and wasting of the small

muscles of the hand. There is often nothing to see in theneck but sometimes there is a little prominence, as can beseen in the right supraclavicular fossa in this patient (6.10,6.11). Pressure on the palpable cervical rib may producepain and tingling in the ulnar border of the hand andforearm.

Webbing of the neck, although not always present, is acharacteristic feature of Turner's syndrome (6.12). It ismore likely to be associated with congenital cardiac abnor-malities such as coarctation of the aorta, atrial or ventricu-lar septal defect and aortic stenosis. These patients with XOsex chromosomes have gonadal agenesis with primaryamenorrhoea, poorly developed secondary sexual charac-teristics, short stature, a shield-like chest, shortening of oneor more of the metacarpals (see 9.144) and an increasedcarrying angle at the elbow (6.13). Some patients with theKlippel-Feil syndrome also have webbed necks (6.5,6.6).

6.10 and 6.11Right cervical ribsuggested by aprominent area inthe rightsupraclavicular fossa

6.12Turner's syndromewith a short,webbed neck

6.13Turner's syndrome:short stature, broad,shield-like chest,absent pubic hairand increasedcarrying angles


132

There is another form of Turner's syndrome (pseudo-Turner's, Ullrich's, Noonan's syndrome) (6.14) in whichthere is webbing of the neck with associated short stature,ptosis, congenital heart disease (pulmonary stenosis, atrialseptal defect, etc.), hypogonadism, triangular facies, promi-

nent brow and hypertelorism. The patient is usually a phe-notypic male with testicular aplasia.

A short neck and small stature are also characteristicfeatures of the growth hormone deficiency syndrome(6.15).

6.14Noonan's syndromewith a short,webbed neck andhypertelorism

6.15Growth hormonedeficiency syndrome

6.16Thyroglossal cyst

6.17Branchial cyst

6.18Graves' disease withdiffuse enlargementof the thyroid gland

THE NECK

133

A thyroglossal cyst is the commonest congenital neckswelling. It is a painless, smooth, midline swelling betweenthe thyroid isthmus and the hyoid bone (6.16), that usuallymakes its appearance at adolescence. The swelling movesupwards when the patient swallows or protrudes thetongue.

A branchial cyst arises from the vestigial remnant of thesecond branchial cleft. Although it is present at birth, itusually only becomes visible at adolescence. It appears atthe anterior border of the sternomastoid muscle at thelevel of the hyoid bone (6.17). It is deep-seated, painless,fluctuant and transluminant unless infected when it be-comes tense and painful.

Enlargement of the thyroid gland (goitre) is by far thecommonest neck swelling with important clinical implica-tions as it may be associated with a normal, hyperactive or

underactive thyroid status. Patients with Graves' diseasehave diffuse enlargement of the thyroid gland often withassociated eye signs (6.18). A toxic multinodular goitremay produce unequal enlargement of the two lobes andthe swelling may reach as high as the submandibular gland(6.19). The boundaries of the enlarged thyroid gland canbe better appreciated if viewed when the patient swallowsa sip of water. There are usually no eye signs (6.20) unlessthe patient also has Graves' disease.

Both the toxic multinodular goitre and the toxicadenoma (6.21-6.23) are more common in areas of iodinedeficiency. Hyperthyroidism may be readily precipitatedby iodine ingestion in iodine-deficient patients and in thosewith goitres (Jod-Basedow phenomenon}. An isolatedsmall swelling may mimic a thyroglossal cyst as in thispatient (6.24) with autoimmune thyroiditis.

6.19 and 6.20Multinodular goitreunassociated witheye signs

6.21Multinodular goitre

6.22 and 6.23Toxic adenoma withthe swelling in theisthmus of thethyroid gland


134

Endemic iodine deficiency and the ingestion of goitro-gens are common causes of a goitre in certain areas.Cassava is a well-known goitrogen in some areas ofiodine deficiency. Such patients often have large goitres(6.25) without any clinical or biochemical evidence ofhypothyroidism.

A multinodular goitre may be malignant, in which caseone or more nodules may be hard and fixed to the deeptissues and to the skin. There may also be associated fea-tures such as lymphadenopathy or spread to the deeptissues and the skin. Figure 6.26 shows a malignant mul-tinodular goitre that has spread retrosternally, causingobstruction of the superior vena cava.

Lymph node enlargement, which is either easily palpa-ble or visible, is almost always clinically significant, since

infection, lymphoma and metastasis are all possible causes.Asymptomatic, gross, nontender lymphadenopathy of theneck (6.27) may be the only manifestation of a lymphomaat presentation. In some cases, there may be coexistingmediastinal involvement (6.28). Figure 6.28 shows thetelangiectasis and the maculopapular lesions secondary toradiotherapy.

Tuberculous adenitis usually affects one group of glands,most frequently along the upper jugular chain (6.29,6.30).The majority of patients are either children or youngadults in whom the organism gains access through thetonsils. The likely source of infection is either exposure toa patient with open tuberculosis or ingestion of contami-nated milk. In most patients, the infection is limited to thecervical glands but the urine should be examined for acid-

6.24Localized swellingconfined to the isthmusof the thyroid gland

6.25A large goitreassociated with endemiciodine deficiency

6.26Thyroid malignancy withtethered, erythematousoverlying skin. Note thebluish, engorged veinsdue to superior venacava I obstruction

6.27Lymphoma

6.28Lymphoma withplethora,telangiectasis andmaculopapularlesions on the chest

6.29Tuberculous adenitis

THE NECK

135

fast bacilli and the chest should be X-rayed, since theremay be a primary focus in the lungs and the kidneys mayalso be involved.

In untreated cases, the infection progresses to a coldabscess (6.31, 6.32) and the caseating material may liquifyand break through the capsule producing a nonhealingsinus (6.33).

The neck is an area where more than one structure maybe affected simultaneously. The clinician, after findingone abnormal sign (e.g. a goitre), must be careful not toabandon the search for other abnormalities such as lym-phadenopathy (6.34).

Cervical lymphadenopathy is also a frequent manifesta-

tion of infectious mononucleosis and toxoplasmosis (6.35),sometimes in association with AIDS.

Most of the vascular signs in the neck are dynamic phe-nomena, for example the large upstroke and a sharp fall ofthe carotid pulse wave (Corrigan's sign) in aortic incom-petence, the associated nodding movements of the head(de Mussel's sign), and the giant v wave oscillating the earlobe in patients with tricuspid incompetence and conges-tive cardiac failure. The engorged and static neck veins,without an oscillating column of blood even on standing,and the suffused face suggest superior vena caval obstruc-tion (6.36, 6.37).

A careful inspection of the neck can reveal clues that

6.30Tuberculous adenitisof the left jugularchain

6.31 and 6.32A cold, tuberculousabscess

6.33A nonhealingtuberculous sinus

6.34A nodular goitre onthe right side andenlarged lymphnodes in the leftanterior cervicaltriangle. Noteassociated wasting

6.35Cervicallymphadenopathy:toxoplasmosis


136

may be of profound clinical significance. Figure 6.38 showsan emaciated man with grossly reduced cricomanubriumdistance suggestive of a wasting condition and chronicobstructive airways disease. In such thin patients thesurface contour of the trachea is better seen than felt, anda closer look suggests that it is deviated to the right (6.39).This patient had a bronchogenic carcinoma in the rightlung causing collapse of a part of the upper lobe.

The skin of the neck may be involved in skin diseasesaffecting other parts of the body but there are a few dis-orders of particular importance to the neck. For example,herpes zoster may be localized to the cervical spinal nervesand the vesicles may be seen only on the neck along thecutaneous distribution of C2-C4 (6.40). Contact dermati-tis caused by a metal is seen on the neck along the areasof contact with a necklace (nickel dermatitis) in sensitive

6.36 and 6.37Superior vena cavalobstruction:engorged jugularveins and suffusedface

6.38 and 6.39Chronic obstructiveairways disease andbronchogeniccarcinoma. Notereducedcricomanubriumdistance and right-deviated trachea

6.40Herpes zoster withruptured, crustedvesicles

THE NECK

patients (6.41,6.42). A similar reaction occurs when nickel-containing jewellery is worn on the ear lobes, wrists andfingers of nickel-sensitized individuals.

There are some skin conditions that have a predilectionfor other areas but, when present on the neck, theyproduce a striking appearance. Among these are thebrownish, crusted papules of Darier's disease (6.43, see

also p. 44), and the polygonal, flat-topped, white papules oflichen sclerosis atrophicus (6.44). In the former, the sev-erity differs from person to person; in severe cases theskin may be widely affected, causing much discomfort andembarrassment, since the abnormality remains for life. Inthe latter, the lesions may involve genitalia causing dysuria,dyspareunia, phimosis and recurrent balanitis.

6.41Nickel dermatitis

6.42Small, darkish-red,confluent papuleswith indistinctmargins along theline of contact with anecklace containingnickel

6.43Darier's disease:small, brownishconfluent papuleswith scales,coalescing into alarge patch

6.44Lichen sclerosusatrophicus:porcelain-white,confluent papules


138

The neck is a characteristic site for the yellowish papulesof pseudoxanthoma elasticum, which give the "pluckedchicken skin' appearance (6.45, 6.46). Once suspected, theaxillae can be examined for further supportive evidencewhere similar cutaneous lesions (6.47) and the redundant,loose, inelastic skin folds, caused by the changes in the con-

nective tissue in this condition, can be seen (6.48). Thecutaneous lesions are usually seen in childhood but themost devastating complications are the vascular manifes-tations, which appear later and include hypertension,gastrointestinal and cerebral haemorrhages, peripheralvascular insufficiency and coronary artery occlusion.

6.45Scattered yellowishpapules and theunderlying defectiveelastin and collagengiving a 'pluckedchicken' appearance

6.46Multiple, confluent,yellowish andbrownish papulesforming a pebbledplaque. Note atendency toformation of foldslaterally

6.47Yellowish(pseudoxanthomatous)papules

6.48Loose, excessivefolding in the skin

THE NECK

Lichen simplex chronicus, as circumscribed areas oflichenification, occurs on the neck (6.49) as it does on otherareas of friction (e.g. arms, legs, ankles and anogenitalareas). The lesions are caused by repeated rubbing orscratching, either as a habit or due to stress (localizedneurodermatitis).

The neck and the upper part of the trunk may beinvolved in the localized scleroderma of Buschke; here theneck looks hidebound with nonpitting, tight, induratedskin (6.50). The condition is often associated with diabetesmellitus and correlates with the duration of the diseaseand the presence of microangiopathy. In systemic sclero-sis, the neck may not only show the telangiectasia, which

is usually seen on the face, but it is also a suitable placeto see the tethered skin (6.51) so characteristic of thiscondition.

Neuromuscular and joint disorders can cause abnormalpostures that provide clues to an underlying condition. Alesion of the eleventh cranial nerve, which supplies thesternomastoid and trapezius muscles, can be suspectedfrom the absence of the muscle fold between the neck andthe shoulder, giving the affected side a flatter appearance(6.52). A reduction in the bulk of the supraspinatus muscle(6.53) is often the result of an injury to the suprascapularnerve (C5), which also supplies the infraspinatus muscle(6.54). This can be suspected from the frontal appearance

6.49Lichen simplexchronicus: confluent,papular, folliculareczema forming aplaque withlichenification

6.50Scleroderma ofBuschke with a poorlydefined induration ofthe skin

6.51Systemic sclerosis.Note the stretched,wrinkled skin overthe neck andperioral furrowing

6.52Right eleventhcranial nerve palsy

6.53 and 6.54Injury to thesuprascapular nervecausing wasting ofthe supraspinatusand infraspinatusmuscles. Note thedimples at the backcaused by thewasting of theinfraspinatus muscle


140

because of the steep line between the neck and the shoul-der, which drops straight onto the point of the shoulderjoint due to the flattening caused by the atrophy of thesupraspinatus muscle (6.53).

Ankylosing spondylitis distorts the spinal curvaturesproducing a fixed thoracic kyphosis, with compensatoryextension of the cervical spine to maintain a horizontalvisual axis; also, the patient is unable to look up at theceiling (6.55). There is also loss of the lumbar lordosis and

the anterior abdominal wall is squeezed out by the extremethoracic kyphosis (6.56).

In cases of attempted hanging the neck should be exam-ined for the critical ligature marks, with deeper chemoticimpression in the front and suffused skin above the mark(6.57, 6.58). The question can be of great medicolegalimportance, particularly when the subject with the ligaturemark (6.59) is accusing someone else for the attemptedhanging.

6.55 and 6.56Ankylosingspondylitis: fixed,severe thoracickyphosis producinga question-markappearance

6.57 and 6.58Attempted hangingwith a well-definedligature mark

6.59A self-inflicted, ill-defined ligaturemark

7 THE CHEST141

A clinician's inspection of a patient's bare chest has toyield three major objectives. First, the chest offers a largesurface area where abnormalities (e.g. cutaneous, vascular,glandular, muscular and bony) relevant to the chest, theorgans within and to other systems of the body may befound. Second, the movements of the rib cage during inspi-ration, whether expanding outwards (normal), or mainlyupwards (chronic airways obstruction), their symmetry,fullness or indrawing of the rib spaces (rib recession), andany precordial pulsations should all be carefully noted.Third, a competent clinician always listens to the patient'sbreathing while observing the chest. As the informationlikely to be gained from the breath sounds is so valuable,it is worth placing the bell of the stethoscope in front ofthe patient's mouth and listening through it. Particularnote should be taken of the relative length of the inspira-tion and expiration, and of any noises accompanying each.This is a dynamic exercise and cannot be treated with anydetail in an atlas.

The inspection of the chest is best carried out by stand-ing a few feet in front of the subject so that the overall shapeof the rib cage, its various dimensions, and the apices andtheir symmetry can be assessed. Deformities of the rib cageare very informative, not only about the conditions thatcaused them but also because they may alter the findingsobtained during the subsequent parts of the examination.Boihpectus carinatus (pigeon chest) (7.1) characterized bya prominent anterior sternal ridge with the ribs fallingsteeply away on either side, and ihepectus excavatus (funnelchest) (7.2) may displace the apex beat and give an erro-neous impression of cardiomegaly. In most cases the mainsymptom is the embarrassment because of the deformitybut some patients may complain of dyspnoea, palpitationsand recurrent bronchopulmonary infections.

Harrison's sulcus (7.3, 7.4) is a horizontal groove oneither side of the chest lying a few centimetres above thecostal margin. It is usually caused by recurrent respiratoryinfections complicating childhood rickets.

7.1Pectus carinatus

7.2Pectus excavatus

7.3 and 7.4Harrison's sulcus:bilateral depressionof the rib cage inthe inframammaryregions


Ankylosing spondylitis (7.5) distorts the shape of thechest, reduces the movements of the rib cage, and is some-times associated with apical fibrosis of the lungs.

It is unsafe to conclude that any altered shape of thechest is caused by some intrinsic lung disease without priorinspection of the spine, looking for scoliosis or kyphosisand for the possible effects of previous surgery.

Scoliosis (7.6), kyphosis (7.7) and kyphoscoliosis (7.8)may result from a congenital abnormality (with or withoutvertebral defects), disorders affecting the vertebralbodies (e.g. tuberculosis, rickets, osteomalacia, trauma),neuromuscular disease (e.g. poliomyelitis, Friedreich'sataxia) or a thoracoplasty. In scoliosis, the spine is curvedconvex to the side of the scoliosis, and the rib cage on the

7.5Ankylosingspondylitis:kyphoscoliosis

7.6Scoliosis withconvexity on theright side

7.7Kyphosis

7.8Congenitalkyphoscoliosis

THE CHEST 7

opposite side appears unsupported and compressed,raising up one or more folds of the skin (7.9, 7.10). Theprincipal clinical features of severe kyphoscoliosis, apartfrom the deformity, are dyspnoea on effort, often leadingto cor pulmonale. This results from the rigidity of the ribcage, which increases the work of breathing, decreasesthe vital capacity and tidal volume (with rapid shallowbreathing), and eventually leads to hypoxaemia andhypercapnia.

Apical flattening on one side may be the result of an oldthoracoplasty (the recommended treatment for tuberculo-sis before the era of effective chemotherapy). There will bea scar of the operation (7.11) and a closer look may showthat the trachea is deviated to that side (7.12). A somewhatflatter chest wall on one side without an obvious scarshould induce one to look at the back of the chest, wherethe large scar of a previous thoracoplasty may be easilyvisible (7.13).

7.9 and 7.10Marked scoliosisaffectingthoracoabdom i nalposture

7.11Scar of previousthoracoplasty andconsequent flatteningof the upper chest

7.12Thoracoplasty scarand deviation of thetrachea to the right


144

Cystic fibrosis should be suspected in any patient who isan underachiever in weight and height for their age (7.14),who has a deformity of the rib cage (7.15), clubbing of thefingers (7.16) and who presents with cough and purulent

expectoration suggestive of bronchiectasis. Nasal polyps(7.17) occur in approximately one-half of these patients.In most cases, there is also evidence of pancreaticinsufficiency.

7.13Thoracotomy scar

7.14Cystic fibrosis

7.15Marked rib recessionwith carinatusdeformity

7.16Clubbing andcyanosis of thefingers

7.17A nasal polyp

7.18Crohn's disease: abare rib cage andthin abdomen

7.19Bronchogeniccarcinoma: cachexia

THE CHEST

The overall nutritional status of a patient can beassessed by looking at the chest. In wasting disorders, theloss of muscle bulk and subcutaneous fat makes the nor-mally rounded rib cage look square, as in this patient withCrohn's disease (7.18).The ribs become prominent and therib spaces show marked guttering, as seen in this man witha carcinoma of the lung (7.19).

A scar of a previous mitral valvotomy (7.20) will oftenexplain a patient's symptoms and give some insight intothe possible auscultatory findings. It is not ususual for apatient to forget to mention this operation; the benefit andtiming of it having been obscured by a galaxy of worsen-ing symptoms. A midline scar (7.21) suggests that thepatient has either had a valve replacement or coronaryartery bypass surgery.

Multiple dilated veins on the chest together with staticengorgement of the neck veins (7.22) point to superior

vena caval obstruction. The offending lesion may either bea carcinoma of the bronchus, as in this patient (7.23) withvisible radiation markings; a lymphoma involving themediastinal glands; mediastinal fibrosis; aortic aneurysm; aretrosternal goitre or carcinoma of the thyroid gland withmediastinal extension.

The normal anatomical structures on the anteriorsurface of the chest are the nipples in a male and thebreasts in a female. These should be inspected care-fully for any enlargement in the male, and for under-development or asymmetry in the female. A broad,shield-like chest with widely spaced nipples and under-developed breasts (7.24) are seen in females with Turner'ssyndrome. These patients are short (usually less than1.5m) in stature, with gonadal agenesis (chromosomes 45,XO) and often have cardiovascular abnormalities (seep. 131).

7.20Scar of a previousmitral valvotomy

7.21A midline scar ofmajor cardiacsurgery

7.22Superior vena cavalobstruction: dilatedveins on the neckand over the chestand facial suffusion

7.23Radiation marks onthe chest of a patientwith carcinoma ofthe bronchus

7.24Turner's syndrome: abroad, shield-likechest withunderdevelopedbreasts


146

Gynaecomastiaassociations:

(7.25, 7.26) has many causes and

• Age-related (e.g. puberty, senile - rise in oestrogensand fall in androgens);

• Endocrine (e.g. thyrotoxicosis, hypothyroidism,pituitary disease, Addison's disease, testicular tumours,adrenal carcinoma, isolated gonadotrophin deficiency);

• Chromosomal (e.g. Klinefelter's syndrome - 47, XXY);• Metabolic (e.g. hepatic failure);• Neoplastic (e.g. carcinoma of the lung);• Drug-induced (e.g. oestrogen therapy, aldactone,

digoxin, alkylating agents, griseofulvin, methyldopa,phenothiazines, tricyclics, anabolic and adrenocorticalsteroids, isoniazid, etc.).

Approximately 5% of patients with carcinoma of the lungdevelop gynaecomastia, sometimes associated with

hypertrophic pulmonary osteoarthropathy. The presenceof gynaecomastia must not be accepted on inspectionalone, particularly in an obese subject. The swelling mustbe palpated for the presence of glandular tissue, therebydistinguishing it from adipose tissue.

Puckering and indrawing of a part of the breast (7.27),with or without apparent induration, is a serious sign andsuggests the presence of a neoplasm.

Almost all of the skin disorders can involve the chest,although in some cases the lesions are missed because ofinadequate undressing before clinical examination of thepatient. Telangiectasia are by far the most important of thecutaneous lesions to look for, since these are seldom foundbelow the transnipple line. Sometimes they occur in cropson the upper chest, as in this patient with the Budd-Chiarisyndrome (7.28).

Psoriasis (7.29) and drug eruptions (7.30) are two good

7.25Gynaecomastia

7.26Gynaecomastia withprominent breastsand unassociatedwith confoundingobesity

7.27Malignancy:puckering andindrawing of the leftbreast

7.28Diffuse telangiectasis

THE CHEST

147

examples where an unwary clinician either ignores orforgets to look at the trunk. In guttate psoriasis, numerouspapular lesions appear on the trunk (7.31), sometimes wellbefore any appear on the extremities. This condition usuallyfollows, within 1-3 weeks, an upper respiratory tractinfection.

In chicken pox, pruritic vesicles and pustules are presentmainly on the face and trunk (7.32,7.33). The initial lesionis a papule but by the time of presentation the papuleshave changed into vesicles, which develop into pustules.In a typical eruption, all these successive stages (vesicles,pustules and crusts) may be seen together.

7.29Psoriasis: well-circumscribed,erythematous,scaling plaques

7.30Drug eruption:diffusemaculopapular rash

7.31Guttate psoriasis:confluent,erythematous,scaling papules andplaques

7.32 and 7.33Varicella: apapulovesiculareruption withcrusting overruptured vesicles


148

Tinea versicolor, a chronic fungal (Pityrosporum or-biculare) infection, has a predilection for the trunk. Thelesions are sharply defined, red, white or brown maculeswith fine scaling, usually in clusters, and are scattered bothon the back (7.34) and the front (7.35) of the chest. Thisinfection occurs mostly in warmer climates and also in sus-ceptible patients who may have had prolonged treatmentwith corticosteroids.

Inspection of the chest can provide further supportiveevidence in many cases where diagnosis is suspectedafter looking at the exposed parts of the body. In theEhlers-Danlos syndrome (see also p. 64), paper-thin scars

may be seen on the chest (7.36) which are caused by theconstant trauma of the clothes rubbing on the skin. Cafe-au-lait spots can be the earliest sign of von Reckling-hausen's disease (neurofibromatosis). These spots, usuallyfound on the trunk (7.37), appear in early childhood andbecome bigger and more numerous with advancing age.Unilateral pigmentation, usually in a nerve root pattern onthe trunk, occurs in Albright's syndrome (7.38). This con-dition usually affects females who have sexual precocityand polyostotic fibrous dysplasia (deformity of the upperpart of the femur, asymmetry of the long bones and of theskull, etc.).

7.34 and 7.35Pityriasis versicolor:sharply marginoted,scaling, light-brownmacules

7.36Thin, 'cigarettepaper' scars

7.37Cafe-au-lait spots:sharply demarcated,hypermelanosismacules

7.38Albright's syndrome:pigmented patchesover the C4 and C5dermatomes

Both axillae should be looked at for a glandular swellingor a cutaneous lesion as part of the visual survey of thechest. Acanthosis nigricans has a predilection for theaxillae, groins and other body folds. In this condition, thereis hyperpigmentation with diffuse velvety thickening of theskin (7.39,7.40). In its juvenile form (below 40 years), it maybe familial or be associated with a variety of endocrine dis-orders (e.g. noninsulin-dependent diabetes mellitus,acromegaly, Addison's disease, hypothyroidism, hyper-thyroidism, Cushing's syndrome and hyperandrogenicstates often associated with obesity and polycystic ovaries).

Seborrhoeic warts may be seen in the axillae (7.41) andmay develop rapidly on the legs (Leser-Trelat sign), asso-ciated with internal malignancy. In elderly patients, acan-

thosis nigricans is often a sign of an underlying malignancy,usually adenocarcinoma of the stomach, large and smallbowel and uterus, less commonly ovary, breast, prostateand lung. Sometimes, it precedes the neoplasm by someyears. Verrucous lesions appearing in a nonobese adultmerit a vigorous search for an underlying neoplasm, mostlyin the stomach.

Erythrasma (Greek for 'red spot'), a chronic bacterialinfection caused by Corynebacterium minutissimum,affects the intertriginous areas such as the axillae, groinsand between the toes. The lesions are red or brownish-red,sharply marginated macules, which are seen either scat-tered or in confluent patches (7.42). The lesion fluorescescoral-red under Wood's lamp.

149

7.39 and 7.40Acanthosisnigricans: poorlydefined,hyperkeratoticverrucous changes

7.41Seborrhoeic warts:multiple, 'stuck on',keratotic warts

7.42Erythrasma: sharplymarginated, reddish-brown macularpatch

7.43Bowen's disease:sharply demarcated,scaly, erythematousplaque


150

Bowen's disease, or an intraepidermal epithelioma(7.43), appears as a small, rounded or oval plaque with ery-thema and scaling. Although its course tends to be benign,metastases are known to occur.

Vitiligo, a circumscribed hypomelanosis resultingfrom enlarging and coalescing white macules, appears in amirror-image distribution (see 9.99) around body orifices,over the bony prominences (e.g. knees, elbows, hands), inthe axillae (7.44) and groins. It is familial in over one-thirdof cases and is often associated with a variety of auto-immune disorders (see Table 9.2, p. 176).

Pemphigoid (7.45) and the papular exanthem of second-ary syphilis (7.46) are some of the other skin conditionsthat involve the trunk. Tuberculoid leprosy may presentas one or more asymmetrical, well-defined, slightly scalyhypopigmented areas on the chest (7.47). There is alwaysloss of sensation in these lesions, which helps to distinguishthem from pityriasis versicolor. The loss of sensationusually affects light touch and temperature, but sometimesappreciation of pain is lost as well.

7.44Depigmented,sharply demarcatedmacular patch

7.45Erythematouspapules andruptured bullae withcrusted tops

7.46Secondary syphilis:maculopapulareruption

7.47Tuberculoid leprosy:well-defined,hypopigmented,

sthetic jle

8 THE ABDOMEN151

Although in many cases inspection of the abdomenmay have less to offer than palpation and percussion, agood visual scan is still essential to obtain the most fromthe subsequent examination. For example, the question ofwhether an abdomen is protuberant because of obesityand/or ascites may be difficult to resolve, without first scan-ning the patient both in the standing and lying positions.In simple obesity, fat is laid down over many years and ittends to gravitate in the suprainguinal and suprapubicfolds (8.1). This chronic fixed dependence can be better

appreciated by looking at the side view of the patient (8.2)which also reveals fat-laden skin folds at the back.

In contrast, the patient with ascites shows mobiledependence of the ascitic fluid, which, on standing, pro-trudes in the middle and overhangs the pubis (8.3). Thesuprainguinal areas on either side show a furrow insteadof a fold and the umbilicus looks stretched, sometimeseverted, under the pressure of the fluid (8.4). These pointsare reinforced by looking at the side view of this patientwith ascites (8.5) compared with Figure 8.2. The ascitic

8.1 and 8.2Simple obesity:deposition of fat insuprainguinal,suprapubic andlateral abdominalskin folds

8.3 and 8.4Ascites: centralprotuberance with astretched umbilicus


152

fluid has gravitated to the suprapubic region, leaving afurrow in the left suprainguinal region where a redundantfold of fat is seen in the obese patient (8.2). In addition,gynaecomastia and dilated veins can be seen in Figure 8.5,which are helpful clues about this patient's underlyingportal cirrhosis. The lateral furrow is also seen when theabdominal swelling is caused by a retroperitoneal cyst orhydronephrosis (8.6, 8.7).

Only after attention to these details can a clinicianproceed to further examination with ample confidence.Sadly, many postgraduate students let themselves downin higher examinations by proceeding with palpation andpercussion of the abdomen without first looking at it. Thisis the chief reason why they miss polycystic kidneys in anobese subject.

The abdomen and the chest provide a large area forlooking for the various stigmata of liver disease such as

jaundice, gynaecomastia, telangiectasia and scratch marks(8.8). In bright natural light, jaundice can be detectedeasily by looking at the skin, as in this patient with acholangiocarcinoma (8.8).

Looking at a standing patient with suspected intra-abdominal pathology should not be omitted in those withno ascites, since a fullness caused by an enlarged liver (8.9)or spleen, or both (8.10), may be made obvious by this pro-cedure. A lateral view will also reveal the scar of a previ-ous operation and a surface impression of a transplantedkidney (8.11).

Dilatation of the abdominal wall veins (8.12) occurs inportal hypertension and in inferior vena caval obstruction.The flow of blood within the veins can be determined byblanching the dilated vein (8.13) and then by releasing thepressure at each end to see the refilling in the directionof the flow (8.14). In intrahepatic portal hypertension,

8.5Ascites: gravitationof fluid centrally,leaving a furrow inthe suprainguinalregion. Notegynaecomastia anddilated veins due tounderlying hepaticcirrhosis

8.6 and 8.7Bilateralhydronephrosisassociated with alarge, retroperitonealcyst

8.8Cholangiocarcinoma:jaundice,telangiectasis andgynaecomastia

8.9Hepatomegaly

THE ABDOMEN

153

paraumbilical veins are enlarged and the flow is away fromthe umbilicus towards the caval system (8.5, 8.15, 8.16).In inferior vena caval (IVC) obstruction, the collateralvenous channels carry blood upwards to reach the supe-

rior vena caval system (8.17). The interpretation regardingthe flow should be made with caution in tense ascites, whichmay cause functional obstruction of the inferior vena cava(8.18). Rarely, a number of prominent collateral veins may

8.10Hepatosplenomegaly

8.11Transplanted kidney

8.12Portal hypertension:gynaecomastia anddilated surface veins

8.13 and 8.14Testing for thedirection of venousflow

8.15 and 8.16Portal hypertension:dilated veins drainaway from theumbilicus to thecaval circulation

8.17Dilated veins drainto superior venacava


154

be seen radiating from the umbilicus (caput medusae)(8.19). Attention should be directed to the other clinicalfeatures associated with chronic liver disease (8.20).

The umbilicus should be inspected for the presenceof umbilical and periumbilical herniae (8.21, 8.22), whichusually occur in obese subjects particularly after abdomi-nal surgery. Nickel dermatitis (8.22) may be seen aroundthe umbilicus in sensitive subjects wearing nickel bucklesnext to the skin.

The umbilicus is also a site of predilection for the darkred papules of angiokeratoma corporis diffusum (Fabry'sdisease; 8.23), which is an X-linked recessive disease. This

is an inborn error of metabolism in which there is a defi-ciency of alpha-galactosidase A, leading to an accumula-tion of glycosphingolipid ceramide in endothelial cells,and fibrocytes in the dermis, heart, kidneys and autonomicnervous system. Progressive renal failure occurs inadult life. Most patients have attacks of excruciating,unexplained pain in their hands.

A valuable but rare sign of acute haemorrhagic pancre-atitis is a bruise or pigmentation near the umbilicus termedCullen's sign (8.24). This occurs when retroperitonealblood dissects its way anteriorly towards the umbilicus,where the colour of the overlying skin depends on the age

8.18Portal hypertensionwith tense ascites:the dilated veins aredraining towards thesuperior vena cava

8.19Caput medusae

8.20Clinical features ofchronic liver disease

8.21Umbilical hernia

8.22Periumbilical hernia.Note maculopapulareruption caused bynickel buckles

8.23Fabry's disease:periumbilical rosetteof dark red papules

Spider naevi

Hepatomegaly

Purpura

Ascites

Distended veinsTattoos

Flappingtremor

LeuconychiaKoilonchiaParonychia

Testicular atrophy

Oedema

8.20

8.22

THE ABDOMEN 8155

of the resulting bruise. The blood may also dissect into theflanks where a similar discolouration may be seen calledthe Grey Turner's sign (8.25).

As for the axillae, the groins should be inspected forincreased or decreased pigmentation, glandular swellings,intertriginous infections, and for herniae. Small glands maybe palpable in normal subjects but visible large glandularmasses (8.26) are mostly pathological (e.g. suggestive ofinfection, lymphoma or secondaries). Tuberculous adenitismay involve the inguinal glands and form a cold abscess(8.27). Lymphogranuloma venereum (8.28) is a sexually

transmitted disease caused by Chlamydia trachomatis.Among heterosexuals, primary infection produces ararely observed genital ulcer 2-3 weeks after exposure,followed later (2-4 weeks) by painful inguinal lym-phadenopathy, often associated with signs of systemicinfection. It heals spontaneously. It must be distinguishedfrom a tumour, chancroid, syphilis and other granuloma-tous diseases.

An inguinal hernia (8.29) is not difficult to recognizein a standing patient but it may regress in a recumbentposition.

8.24Cullen's sign. Note thecoincidental presence ofCampbell de Morgan(cherry angiomas) spots

8.25Grey Turner's sign: abruise in the flankcaused by extravasatedblood from acutehaemorrhagicpancreatitis

8.26Bilateral inguinallymphadenopathy.Note a reddened,inflamed areaoverlying an infectedlymph node

8.28Lymphogranulomavenereum; enlargedinguinal and femorallymph nodesseparated by agroove made by theinguinal ligament(groove sign)

8.27Tuberculous adenitisforming an inguinal

8.29Right inguinal hernia


156

It would seem logical to extend the examination of thegroins to that of the genitalia as part of the overall clinicalassessment. However, most clinicians limit this practice tothose occasions when they expect to find an abnormality.Thus, testicular bulk would be assessed in chronic liverdisease and myotonia dystrophica, whereas under-

developed and infantile genitalia would be looked for inKlinefelter's syndrome (8.30) and in the growth hormonedeficiency syndrome (8.31).

A dermatologist may look routinely for genital lesionswhen he or she has already diagnosed scabies (8.32) orlichen planus (8.33).

8.30Klinefelter'ssyndrome

8.31Growth hormonedeficiency disease:infantile genitalia

8.32Scabies: crustedpapules on thepenile shaft anderythematousscrotum

8.33Lichen planus: flat-topped papules withwhite, shiny surface(Wickham's striae) inan annularformation on theproximal edge of theglans and under theprepuce

9 THE HANDS157

Inspection of the hands is next only to that of the face inyielding a plethora of useful clinical signs. The task ofclinically scrutinizing the hands is vast and needs a logicalapproach. The visual survey should address five questions.

1. Is there an arthropathy? (e.g. rheumatoid,osteoarthrosis, gout, psoriasis, septic);

2. Is there a skin lesion? (e.g. dermatoses, systemicdisorders);

3. Is there a neuromuscular disorder? (e.g. wasting,deformity, fasciculation);

4. Is there a sign supporting those found elsewhere? (e.g.ulcers, erythema, cyanosis, pigmentation, acropachy,etc.);

5. Is there a fundamental sign suggesting a systemicdisorder? (e.g. clubbing, xanthomata, erythemanodosum, etc.).

These questions can be summarized as looking forswelling, deformity, wasting, skin lesions, and normal andabnormal movements. A diagnostic hypothesis can be syn-

thesized from any one or a combination of these signs asillustrated in the following five sections.

ArthropathiesThe hands should be looked at for any signs of arthritissuch as swelling, deformity, wasting, subluxation or anky-losis of the joints. Rheumatoid arthritis is by far the com-monest of the arthritides (1-5%) afecting females at leastthree times more often than males, and with a peak inci-dence between the fourth and sixth decade, although itmay develop for the first time in patients even in theirseventies. Morning stiffness is one of the earliest symptomsand spindle swelling of the proximal interphalangeal joints,tightening of the skin and a slight flexion deformity (9.1)may be seen in such patients. In many early cases themetacarpophalangeal joints (particularly the second andthird) are swollen with a characteristic prominence of theknuckles (9.2), and there may be rheumatoid nodules over

9.1Rheumatoid arthritis

9.2Rheumatoid arthritiswith swelling of themetacarpophalangealjoints


158

the tendons and wasting of the interossei (9.3), which aresuggestive of a severe and progressive disease.

Long-standing disease leads to a variety of deformitiescaused by wasting of the small muscles, subluxation orankylosis of the joints. Ulnar deviation of the fingers(9.4, 9.5) results from subluxation and dislocation ofthe metacarpophalangeal joints. 'Swan-neck' deformity(hyperextension of the proximal interphalangeal joint withfixed flexion of the metacarpophalangeal and terminal

interphalangeal joints) (9.6); Boutonniere deformity(flexion deformity of the proximal interphalangeal jointwith extension contracture of the terminal interphalangealand metacarpophalangeal joints) (9..7); flexion contractureof the fingers (9.8); and Z-deformity (flexion deformity ofthe metacarpophalangeal joint and hyperextension ofthe proximal interphalangeal joint) of the thumb (9.9)are all well-recognized features of chronic rheumatoidarthritis.

9.3Rheumatoid arthritis:erythematous nodulesand guttering causedby wasting of theinterossei

9.4Swelling of themetacarpophalangealand proximalinterphalangeal jointswith ulnar deviation

9.5Marked subluxationof themetacarpophalangealjoints and ulnardeviation

9.6Rheumatoid nodules,swelling, subluxationand ulnar deviation.Note 'swan-neck'deformity in the rightsecond and left fifthfingers

9.7Boutonnieredeformity in the rightfourth finger andswan-neck deformityin the left fifth finger

9.8Flexion contractureand palmarerythema

THE HANDS

Cutaneous changes in rheumatoid arthritis may be theresult of the disease or caused by the treatment. Atrophic,thin skin and purpura in association with severe arthritis(9.10) often results from corticosteroid treatment. Skinnodules (9.11) occur in approximately one-quarter ofpatients. They are usually associated with severe diseaseand a high titre of rheumatoid factor. Palmar erythema may

occur with both the mild (9.12) as well as the severe formsof the disease (9.13).

Nailfold infarcts (9.14) are an external expression ofdigital arteritis, and are the result of inflammation whicheventually leads to thrombosis of tiny end-arteries. Exten-sive digital arteritis may result in a complete loss of per-fusion and gangrene of the finger (9.15).

9.9Z-deformity of thethumb

9.10Advancedrheumatoid arthritis:bilateral deformingarthropathy andpurpura fromcorticosteroidtherapy

9.11Rheumatoid arthritis.Note a nodule witherythematous surfaceon the elbow

9.12Palmar erythema

9.13Rheumatoid arthritiswith marked ulnardeviation andpalmar erythema

9.14Nailfold infarct


160

9.15Digital arteritisresulting in agangrene

9.16'Burnt-out'rheumatoid arthritis

9.17 and 9.18'Burnt-out' grosslydeformingrheumatoid arthritis

9.19Chronic goutyarthritis with anulcerated tophus

9.20An ulcerated tophusrevealing ayellowish-white uratedeposit

9.21 and 9.22Chronic goutyarthritis withasymmetrical,nodular swellings

THE HANDS

161

Unlike in a neuromuscular disorder, many patients withrheumatoid arthritis, even with gross muscular wasting,retain a reasonable degree of power and function in thehands. Nevertheless, end-stage or 'burnt-out' arthritisseverely distorts the hands (9.16,9.17), and sometimes onlyshort and disfigured stumps of fingers (9.18) remain, withvery little useful function.

Chronic gouty arthritis (9.19) sometimes resemblesrheumatoid arthritis at first sight but it may be betrayed bythe presence of tophaceous urate deposits, which mayproduce a yellowish-white, hard swelling on one or moreof the fingers (9.20). As a result of these tophaceous

deposits, the joint deformities in gout, unlike those inrheumatoid arthritis, are neither predictable nor sym-metrical (9.21, 9.22). In gout, one joint may be much moreswollen with an irregular tumescence compared with itsneighbour (9.23,9.24), and the urate deposits may ulceratethrough the stretched shiny skin (9.25). The tophi areusually painless and nontender but their presence causesstiffness, ache and decreased mobility of the affectedjoint.

Subcutaneous deposits of urate on the finger tipscan show through the skin as yellowish-white granularswellings (9.26).

9.23 and 9.24Chronic goutyarthritis withtophaceous, nodularswelling of somefingers while sparingthe others

9.25A urate tophusulcerating throughthe skin

9.26Yellowish-whitegranules of uratedeposits


162

Acute gout should always be considered in the differ-ential diagnosis of a sudden monoarthritis (three-quartersof initial attacks affect a single joint). Although over halfthe attacks affect the lower extremity, a sudden appearanceof an inflamed, painful elbow (9.27) should alert the clini-cian to the possibility of acute gout.

In osteoarthrosis, the hands present a characteristicpicture of a 'square hand' with adduction of the firstmetacarpal, bony enlargements, subluxation of the meta-

carpophalangeal joints, wasting of the small muscles anddeformity of the terminal interphalangeal joints (9.28).Women are more commonly affected than men (in a ratioof 3:2) and are particularly liable to develop the nodularform of osteoarthrosis (9.29).

Heberden's nodes (nodular swellings of the terminal inter-phalangeal joints) (9.30), often associated with flexion (9.31)or lateral deformity (9.32) of the terminal phalanges, are thecharacteristic features of osteoarthrosis of the hands.

9.27Acute gout of theelbow

9.28Osteoarthrosis withflexion deformity ofthe terminalinterphalangealjoints

9.29Nodularosteoarthrosis with atypical 'squarehand' deformity

9.30Heberden's node

9.31Heberden's nodes onthe terminalinterphalangealjoints with flexiondeformity

9.32Heberden's nodeswith lateraldeformity of theterminal phalanges

THE HANDS

163

Bony swellings may also occur at the proximal inter-phalangeal joints (Bouchard's nodes) (9.33). Deformityof the distal interphalangeal joints may also occurin gout (see 9.24) and in psoriasis (9.34); however,neither condition is difficult to distinguish fromosteoarthrosis.

The shoulder joint is less likely to be involved inosteoarthrosis than the weightbearing hip and knee joints.However, a rapidly destructive osteoarthrosis with ablood-stained effusion may occur in the shoulder joint(9.35) and in other sites.

Psoriatic arthropathy characteristically affects the distal

interphalangeal joints and there may be associated pittingof the nails (9.36). In advanced cases, there may be anextremely destructive arthropathy resulting in absorptionof the phalanges, giving rise to telescoping of the fingersand the 'main-en-lorgnette' phenomenon in which thefingers can be lengthened or shortened by the examiner(9.37, 9.38). Fortunately, most cases of psoriatic arthritisare benign and do not progress to such mutilation (arthri-tis mutilans.)

Septic arthritis usually affects bigger joints in patientswho have other evidence of septicaemia. The arthritismay appear in more than one joint as in this patient, who

9.33Bouchard's andHeberden's nodes

9.34Psoriatic arthropathyaffecting distalinterphalangealjoints. Note theassociated naildystrophy

9.35Osteoarthrosis witheffusion of theshoulder joint

9.36Psoriasis: pitting ofthe nails

9.37Arthritis mutilanswith telescoping ofthe right fourthfinger

9.38Arthritis mutilanswith telescoping and'pencil and cup'sign. Note themultiple psoriaticplaques


164

developed septic arthritis of the left wrist (9.39) 3 daysafter cellulitis, septicaemia and septic arthritis of the rightknee. Nevertheless, this diagnosis should always be con-sidered when there is arthritis of a single joint (9.40), asurgent treatment is mandatory.

Clinical diagnosisThe correct diagnosis depends upon obtaining a goodhistory, having some knowledge of the specific appear-

ances and matching these with the observed findings, andon carrying out several relevant tests. All the arthritideshave a typical appearance and the diagnosis is not usuallydifficult. Some knowledge of what and where to look forobtaining supplementary evidence is necessary for makingan accurate diagnosis. For example, rheumatoid diseaseinvolves almost any part of the body (9.41) and a com-prehensive clinical examination will yield some helpfulclues to support the impression gained by looking at thehands.

9.39Septic arthritis of leftwrist

9.40Septic arthritis withswollen, inflamed leftelbow joint

9.41

Clinical features ofrheumatoid disease

Episcleritis, scleritisScleromalacia perforansSjogren's syndrome (dry eyes)

HeartPericarditisMyocarditis(conduction defects)Valvular defects -—

(Splenomegaly)Felty's syndromeHepatosplenomegaly(Amyloidosis)

Carpal tunnelsyndrome

Peripheral neuropathyMononeuritis multiplex

Anaemia

Cervical spine disease(Atlanto-axialsubluxation)

ChestPleural effusionFibrosing alveolitisRheumatoid nodulesMassive fibrosis(Caplan's) syndrome

Palmar erythema,swelling, deformity,ulnar deviation

VasculitisLeg ulceration

9.41

THE HANDS

165

The elbows and the tendon sheaths along the ulnarborder of the forearm must be inspected for the presenceof rheumatoid nodules (9.42), some of which may bearvasculitic lesions (9.43) characteristic of the disease. Thefingers and nailfolds should also be examined for the pres-ence of vasculitic lesions (9.44).

The asymmetrical, nodular swellings of tophaceous gout

(9.45) are not difficult to recognize and the diagnosis canbe reinforced by locating tophi on the fingertips and theear (9.46).

An acute monoarthritis often poses a major diagnosticproblem because a delay in providing the appropriatetreatment may have consequences not only for the jointbut also for the patient, particularly if an acute septic

9.42 and 9.43Rheumatoid nodules.Note the vasculiticlesions on thesurface of thenodules

9.44Rheumatoid arthritiswith vasculitic lesions

9.45Chronic tophaceousgouty arthritis

9.46A gouty tophus onthe helix of the ear


166

arthritis is missed. Acute gout, pseudogout, haemarthrosis(usually in a haemophiliac patient), osteoarthrosis andseptic arthritis must all be considered in the differentialdiagnosis of acute monoarthritis. The joint is inflamed,swollen, painful and immobile in septic arthritis (9.47) butthese characteristics can also apply to the other arthritidesmentioned above.

Although certain features including a past history ofmonoarthritis, the patient's age and gender (gout andhaemophilia) and the associated conditions (pseudogoutwith hyperparathyroidism, haemochromatosis, acro-megaly, diabetes mellitus, Wilson's disease, hypo-thyroidism, etc.) are important pointers, the definitivediagnosis can only be made by microscopic examinationand culture of the fluid aspirated from the joint.The immune status of the patient should be investigated;those with hypogammaglobulinaemia are prone todeveloping septic arthritis (9.48), and approximately one-

third of the patients with this condition develop arheumatoid-type arthritis.

Skin lesions

The correct diagnosis of a dermatological condition on thehands requires a two-step approach. First, attention shouldbe concentrated on a single lesion to make a descriptivediagnosis (e.g. macule, papule, nodule, vesicle, plaque,tumour, ulcer, etc.). Second, the rest of the body should beexamined for the distribution of the lesions and for thepresence of any associated signs. Skin lesions of the hands,like those of the face, can be subdivided broadly into twosubgroups: (i) dermatoses; and (ii) lesions related to sys-temic disorders. The commonly encountered dermatosesare listed in Table 9.1.

9.47Septic arthritis withinflamed, swollenand immobile joint

9.48Septic arthritis andwasting in animmunocompromisedpatient

Table 9.1 Skin lesions in the hands

Lesions

Macules, papules, plaques

Nodules, tumours

Vesicles, bullae, pustules,

ulcers, erosions, scars

Dermatoses

Erythema multiforme, solar keratosis, scabies,

psoriasis, lichen planus, erysipeloid

Squamous cell carcinoma, melanoma, verruca,

pyogenic granuloma

Scabies, herpes simplex, erythema multiforme,

infections

System ic disorders

Vitiligo, lupus erythematosus, secondary syphilis,

granuloma annulare, mycosis fungoides

Granuloma annulare

Porphyria, lupus erythematosus, secondary

syphilis

THE HANDS

167

Dermatoses

Common conditionsScabies is caused by a mite, Sarcoptes scabiei. It pre-dominantly affects the hands and the perineum, usuallyspreads by skin-to-skin contact, and causes generalizedand intractable pruritus, with frequent secondary bac-terial infection. The characteristic lesions are skin-coloured

or grey ridges overlying burrows. They are approximately1 cm long, with a vesicle or a papule at the end (9.49,9.50). More often vesicles, crusted papules, or smallurticarial papules occur on the hands (9.51). Even in theabsence of burrows, crusted lesions and denudedvesicles on the dorsum and the inner sides of the fingers(9.52) provide a characteristic appearance suggestiveof scabies. These lesions are scattered throughout thebody (9.53), over the arms (9.54), over and under

9.53

9.49Scabies: greyish anderythematous linearridges with rupturedvesicles

9.50Skin-coloured ridgeswith rupturedvesicles

9.51Scabies: interdigitalburrow, papules and

9.52Scabies with scratchmarks and crusting

9.53Distribution ofscabies


168

the breasts (9.55), on the buttocks and in the pubic area(9.56).

Eczematous plaques, indurated nodules, excoriationsand crusts of superimposed bacterial infection are seenon the arms (9.57) and hands. The clinical diagnosis isoften suspected on circumstantial evidence. Poverty, over-crowding and sexual promiscuity encourage skin-to-skinspread in epidemic proportions. Intense itching, particu-

larly at night, is suggestive of the condition. The diagnosiscan be confirmed by detecting typical burrows through amagnifying lens and by finding the mite.

Psoriasis may involve the elbows (9.58), hands and nails(9.59) as well as the trunk and the legs which makes thediagnosis easy. However, the palms and soles may be theonly areas affected and the diagnostic clues are the sharpdemarcation of the lesions and the presence of silvery-

9.54Scabies:papulovesicularlesions

9.55Papulovesicularplaques of scabiesunder the breast

9.56Scabies: papules onthe glans and thepenile shaft

9.57Papulonodularlesions withsuperimposedinfection

9.58A psoriatic plaquewith silvery scales

9.59Pitting of the nailsand psoriaticplaques on thedorsum of the hand

THE HANDS

white scales (9.60). This form of the disease is oftenintractable and may require PUVA photochemotherapyand retinoids. The areas affected by psoriasis are shown inFigure 9.61.

Lichen planus often affects the flexor aspect of the wrists

(9.62) with flat-topped, umbilicated and violaceous pa-pules, some of which are discrete and some coalescent. Acloser look shows the characteristic central umbilication ofthe flat, violaceous papules with thin, lacy, white linesknown as Wickham's striae (9.63, 9.64). These striae are

9.60Sharply demarcated,erythematousplaques with silveryscales

9.62Lichen planus: flat-topped, oval andpolygonal, grouped,violaceous papules

9.61Areas of the bodyaffected by psoriasis

9.63Flat-topped,violaceous, groupedpapules with a shinysurface and lacypattern (Wickham'sstriae)

9.64Erythemamultiforme:erythematous skin,papules andruptured vesicleswith crusting


170

better seen with a hand lens. The papules are shiny and canbe shown to reflect light.

Erythema multiforme is characterized by a symmetricaleruption of erythematous, iris-shaped papules ('target'lesions) (9.65), erythematous macules and papules (9.66),and vesicobullous lesions. Although in approximately one-half of the cases there may be no cause, the rash oftenfollows an infection (e.g. herpes simplex, mycoplasma) orthe ingestion of a drug (e.g. penicillin, sulphonamides).

Pompholyx (dyshidrotic eczematous dermatitis) is adeep-seated vesicular type of recurrent eczema on the

9.65Iris-shaped targetlesions with atendency to bullousformation in theperipheral rim

9.66Erythemamultiforme: amaculopapulareruption

feet and hands. The tapioca-like eruption occurs mostly onthe fingers (9.67), palms and soles. The vesicles are deepand pruritic. The cause is unknown although sometimes itmay be caused by either a fungal infection, chromium ornickel.

The hands, like other exposed areas (face, ears, neck),have a tendency to develop solar keratosis. The lesions arediscrete, dry, scaly and adherent multiple or single nodules(9.68). There is excessive folding of the skin in exposedareas. Outdoor workers, such as farmers and sailors, insunny climates are particularly vulnerable.

9.67Pompholyx: sharplydemarcated vesicularpatches withirregular margins

9.68Solar keratosis:papules withhyperkeratotic crustsand increasedfolding of the skin

9.69Pyogenic granuloma

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171

The fingers and face are common sites for pyogenicgranuloma. which is a rapidly developing, red or brownish-red nodule (9.69). The lesion is benign but may bleed andis sometimes mistaken for a melanoma.

InfectionsErysipeloid is an acute infection of the hands caused byErysipelothrix insidiosa. It is an occupational hazard tofishermen, meat processing workers, poultry workers,poachers, abattoir workers, veterinarians and butchers. Thelesions are usually red, sharply defined plaques on the backof the hands and fingers (9.70, 9.71). Like an acute celluli-tis, the lesions look red, angry and indurated but, unlike

cellulitis, erysipeloid is neither very hot nor very tender.Blood cultures should be performed in every patient as theinfection can become disseminated.

Another infection related to fish is a granuloma causedby an atypical mycobacterium in those who handle andlook after fish in tanks. This so-called fish-tank granulomais a raised, skin-coloured or erythematous plaque on theback of the hands and fingers (9.72, 9.73).

Dermatophyte, or fungal, infections are caused by fungithat thrive on the nonviable tissues of the skin or hair, andmostly occur in children or young adults, particularly inimmunocompromised patients. These are usually superfi-cial infections and may be well-demarcated as in thispatient with tinea (ringworm) infection of the hand (9.74).

9.70 and 9.71Erysipeloid: purplish-red, cellulitic plaques

9.72 and 9.73Fish-tank granuloma:skin-coloured anddarkish-red,verrucous plaques

9.74Tinea: well-demarcated, red,scaling plaque witha raised border andcentral clearing


172

The palms become erythematous (9.75) and often showexaggerated creases, fine scaling and some degree ofhyperkeratosis (9.76).

Orf starts as a small, firm papule and then changesinto a flat-topped pustular nodule with a violaceous orerythematous periphery (9.77). The original infection iscontagious pustular dermatitis in lambs, caused by apox virus, and is transmitted to those handling infectedanimals. Orf may be complicated by lymphadenitis anderythema multiforme. It clears up spontaneously in abouta month.

Cutaneous anthrax usually occurs in the upper extrem-ities or on the face and neck, which are likely to be exposedto the contaminated animal product or soil. The initiallesion starts, at the site of an abrasion, as a pruritic papule,which changes into a vesicle and finally ulcerates. The blackeschar (9.78) characteristically evolves over several weeksand it gradually separates leaving a scar. The black escharaccounts for the name 'anthrax' (from the Greek word forcoal). The lesion may progress with nonpitting, gelatinousoedema with a larger, erythematous, brawny area with theblack eschar within (9.79).

9.75 and 9.76Tinea manuum:erythema andscaling (best seen inthe skin folds) withhyperkeratosis

9.77Orf: a violaceous,pustular nodule withan erythematous rim

9.78Anthrax: a slowlyhealing ulcer with anerythematous rimand black eschar

9.79Anthrax: a large, ill-defined,erythematous,oedematous area.Note the blackeschar within thelesion

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173

Systemic disordersAlthough many skin lesions have some relationship with asystemic disorder, there are some lesions that are either ausual, specific, chief or sole manifestation of a systemicdisease; these will be discussed in this section.

Systemic lupus erythematosus (SLE) is suspectedby its characteristic 'butterfly' rash (see p. 46) but thehands also show some helpful clues such as nailfold infarcts(9.80) and vasculitic lesions on the tips of the fingers(9.81).

The characteristic changes of the skin on the face andhands are the most distinctive diagnostic features of sys-temic sclerosis; here the skin is smooth, shiny and taut andmay be peppered with telangiectases (9.82). The softtissues atrophy and the overlying skin becomes thin andshiny, particularly over the pulps and the bony promi-nences of the fingers (9.83, 9.84). These hidebound andtapering fingers (sclerodactyly) lose their free mobility atthe interphalangeal joints and the fingertips become fixedin flexion (9.85). In a few patients, these changes are asso-ciated with typical rheumatoid-like arthritis affecting

9.80 and 9.81Systemic lupuserythematosus:nailfold infarcts andvasculitic lesions onthe fingertips. Notethe characteristicstriate leuconychia inthe nails of themiddle and ringfingers (see also10.77)

9.82 and 9.83Systemic sclerosis:telangiectases andtaut skin

9.84 and 9.85Systemic sclerosis:sclerodactyly -tapering, shinyfingers with flexiondeformity of distalphalanges


174

the metacarpophalangeal joints (9.86). Frequent attacksof Raynaud's phenomenon and vasculitis lead to digitalulcerations and fingertip calluses (9.87, 9.88).

Raynaud's phenomenon (spasm of the arteries supplyingthe fingers and toes, usually provoked by exposure to thecold) occurs without any underlying disorder in approxi-mately 5% of young women (Raynaud's disease). Anattack can be precipitated by immersing the hand in tepidwater. The submerged finger becomes pale and blancheddue to vasoconstriction (9.89), followed by cyanosis causedby a sluggish circulation.

Evidence of chronic Raynaud's phenomenon (cyanosed,tapering, sometimes gangrenous fingertips, with shiny and

flattened pulps) (9.90,9.91) may be seen as a feature of sys-temic sclerosis. However, in the absence of any of the otherfeatures of this condition, other causes of Raynaud's phe-nomenon must be considered as follows:

Idiopathic Raynaud's disease;Occupational causes (e.g. vibrating tools, drills, etc.);Systemic sclerosis;Connective tissue diseases (e.g. SLE, polymyositis,Sjogren's syndrome, rheumatoid arthritis);Cervical rib;Cryoglobulinaemia;Hypothyroidism.

9.86Sclerodactyly

9.87Digital ulceration

9.88Subungual callus

9.89Raynaud'sphenomenon:vasospasm causingpallor of thefingertip afterimmersion in tepidwater

9.90 and 9.91Raynaud's disease:tapering fingertipswith gangrenousareas in the pulps

THE HANDS

Mixed connective tissue disease, a variant of systemic scle-rosis, may be suspected if there are additional muscu-loskeletal signs such as a myositis and an inflammatoryarthritis. Such patients may complain of morning stiffness,muscle pains, weakness and also of general malaise. Inaddition to sclerodactyly, nailfold infarcts (9.92) and atro-phied, shiny finger pulps (9.93), there may be evidence ofsynovial thickening and erythema over the knuckles andinterphalangeal joints (9.94).

In dermatomyositis, the characteristic heliotrope rash

seen on the eyelids and face (see 1.246; p. 48) is often alsofound on the knuckles and on the back of the interpha-langeal joints (9.95).

Vitiligo on the hands is a striking clinical finding (9.96)and occurs in approximately 1% of the population. Itcauses considerable psychological stress because of its cos-metic effects, particularly in racially pigmented subjectsamong whom it is commoner than in Caucasian subjects.The lesions start as white macules (9.97), which coalesceinto circumscribed, milky-white patches and invade the

9.92 and 9.93Mixed connectivetissue disease:sclerodactyly,nailfold infarcts andshiny finger pulps

9.94Erythema over thefinger joints

9.95Dermatomyositis:lilac; atrophicpapules (Gottron'spapules) over theknuckles and fingerjoints

9.96Vitiligo: macularpatches ofhypomelanosis

9.97Hypomelanosismacules


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normally pigmented skin (9.98). Sites that are subject tofriction and trauma are often affected in a symmetrical dis-tribution (9.99).

The lesions are sometimes difficult to see in anuntanned, fair-skinned person (9.100). Exposure to sun-shine not only makes them easily recognizable (9.101,9.102) but also provokes pruritus and may cause sunburn.Vitiligo can be associated with several clinical disorders(Table 9.2), although often it is the only abnormality in anotherwise healthy subject.

In neurofibromatosis (von Recklinghausen's disease),the pedunculated or sessile tumours of varying size may

occur on the hands (9.103, 9.104) as elsewhere (see 1.267;p. 52). It is one of the commonest autosomal dominant con-ditions. The disorder is associated with neurologicaltumours (glioma of the optic nerve and chiasm) andvarious skeletal and endocrine disorders (e.g. kyphoscol-iosis, dysplasia of the skull, phaeochromocytoma). Hyper-tension may result from renal artery dysplasia and femalepatients commonly develop it during pregnancy.

The hands may show numerous telangiectasia inOsler-Weber-Rendu syndrome (9.105,9.106). This findingis of particular importance when there are no stigmata onthe face.

Table 9.2 Conditions associated with vitiligo

Endocrine Hyperthyroidism, hypothyroidism,disorders diabetes mellitus, Addison's disease,

hypopa rathyroid i sm

Skin diseases Morphoea, lichen sclerosus, alopeciaareata, malignant melanoma

Other conditions Pernicious anaemia, myasthenia gravis,etc.

9.98Hypomelanosisspreading into thenormal, pigmentedskin

9.99Vitiligo: sites ofpredilection

9.100Vitiligo in a fair-skinned forearm

9.101 and9.102Vitiligo: the lesionsbecome moreobvious in sun-exposed, tanned skin

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Tylosis, or hyperkeratosis of the palms (9.107) and soles,is a genetic disorder (autosomal dominant trait). Thehyperkeratotic change does not cross the wrist line orinvolve the extensor surface. In some cases it precedesoesophageal carcinoma but sporadic cases have beendescribed in which there was no link between tylosis andcancer.

Neuromuscular disordersWasting, deformity and fasciculation are the three markersof neuromuscular involvement of the hands and should belooked for carefully. Wasting of the small muscles of the

hand may be caused by a lesion affecting the anterior horncells at the C8/T1 level (e.g. motor neurone disease,syringomyelia, Charcot-Marie-Tooth disease, cord com-pression, poliomyelitis), by a lesion affecting the C8/T1roots (e.g. cervical spondylosis, tumour), by injury to thebrachial plexus (e.g. cervical rib, Pancoast's tumour, violenttraction of the arm), or by injury to the median and ulnarnerves that supply the muscles of the hand.

In all conditions that involve the ventral horn cells sup-plying C8/T1 nerve roots, there is wasting of the smallmuscles of the hand with dorsal guttering. Global wastingonly occurs in muscular dystrophy and in motor neuronedisease (9.108). The diagnosis cannot be made by lookingat the hands alone either in these two conditions or in

9.103 and9.104VonRecklinghausen'sdisease(neurofibromatosis I):myriads of skin-coloured and pink-tan, soft papules andnodules

9.105 and9.106Osler-Weber-Rendusyndrome: multipletelangiectasia

9.107Tylosis(keratoderma):thickly keratotic skinwith painful fissuring

9.108Motor neuronedisease with globalwasting of themuscles of the hand


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Charcot-Marie-Tooth disease (9.109), in which there isusually a positive family history (autosomal dominanttrait), and a characteristic distal wasting of the arms andlegs ('inverted champagne bottle') with pes cavus (see11.86, 11.87; p. 232). The muscles do not waste in a globalmanner (9.110) and the degree of disability is often slight.The condition is now referred to as hereditary motor andsensory neuropathy. In some cases the common peronealand ulnar nerves are palpable. The patients walk with ahigh-stepping gait because of bilateral foot drop.

Patients with the cervical rib syndrome (see also p. 131)are likely to be young or middle-aged females who com-plain of pain, weakness and numbness in the hand orforearm (in the area of C8/T1), particularly after using the

affected limb. The resulting muscular atrophy is seldomuniformly global; it predominantly involves the radial sideof the thenar eminence caused by wasting of the abductorpollicis brevis and the opponens pollicis (9.111). In somecases there is only slight wasting of these muscles, whichcan best be appreciated by comparing the two hands, as inthis patient with a left cervical rib syndrome (9.112).

There is no good explanation for the selective sensitiv-ity of these two muscles to the effects of nerve compres-sion at the level of the first rib. There is hyperextension atthe metacarpophalangeal joints and flexion at the inter-phalangeal joints (caused by the action of the long exten-sors of the fingers unopposed by the lumbricals) producinga claw hand or main-en-griffe (9.113, 9.114).

9.109 and9.110Charcot-Marie-Toothdisease: wastingaffecting principallythe lateral aspect

9.111 and9.112Left cervical ribsyndrome: wastingof the thenar

9.113 and9.114Claw hand:unopposed action ofthe long extensorscausing restinghyperextension at themetacarpophalangealjoints

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179

Cervical myelopathy caused by spondylosis is a capri-cious condition with a lack of correlation between therange of symptoms (headache, giddiness, drop attacks,numb or 'useless hands', muscle wasting, etc.), their sever-ity, and the radiological severity of the spondylosis. Inmany patients there are a number of symptoms but fewneurological signs. In a few patients, there may be a para-paresis or segmental muscle wasting, as in this patient withspinal subluxation at the level of C6/7 (9.115). Somepatients (usually the elderly) with normal power in thehands complain of a loss of feeling, of awkwardness, andof difficulty in performing daily activities, such as dressing,shaving and using toilet paper. Their hands are strong and

show no muscle wasting but, when the patient's eyes areclosed, the fingers tend to wander ('pseudoathetosis' orsensory wandering) and the patient is unable to maintaina stationary position of the affected arm (9.116, 9.117).The sensory loss is usually confined to posture andvibration; the objects placed in the patient's hand (withthe eyes closed) cannot be identified by touch(aster eogno sis}.

The claw hand caused by an injury to the ulnar nervediffers from that described already (see 9.113, 9.114) inthat the clawing predominantly affects the fourth and fifthfingers of the hand (9.118, 9.119), which also show a slightdegree of abduction. This deformity is a result of paralysis

9.115Wasting of some ofthe muscles suppliedby C6/7 roots

9.116 and9.117Pseudoathetosis: thepatient is unable tokeep the affectedhand in the sameposture after closingher eyes, when thevisual input is lost

9.118 and9.119The ulnar claw handaffecting principallythe fourth and fifthfingers. Notewasting of themuscles supplied bythe ulnar nerve


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9.120The ulnar claw hand

9.121Dinar nerve palsywith flattening of thehypothenareminence

9.122Right ulnar nerveinjury at the elbow:flattening andhollowing of theright hand

9.123Dorsal guttering

9.124Flattening of theright palm

9.125The journal test ofFroment: the patienthas to pinch to holdon to the paper

9.126A long, linear scarof surgery in theelbow joint. Notedorsal guttering andclawing of the hand

9.127Osteoarthrosis of theelbow: the patientcan only touch hishead by lifting thearm higher at theshoulder joint. Notethe claw hand

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181

of the interossei and the medial two lumbricals, which, incombination, flex the fingers at the metacarpophalangealjoints with the distal joints extended. When these musclesare paralysed (caused by an injury to the ulnar nerve) theunopposed action of the long flexors (from the mediannerve) and extensors of the fingers (from the radial nerve)produces hyperextension at the metacarpophalangealjoints and flexion of the distal phalangeal joints (9.120).Since the two lateral lumbrical muscles are supplied by themedian nerve, the clawing occurs only in the two medial(ulnar lumbricals) fingers.

The hypothenar eminence is flattened (9.121) with lossof the ulnar contour, which can be readily revealed byasking the patient to fold their hands in the manner of theIndian greeting (9.122). Note the evidence of injury at theright elbow showing the cause of the ulnar nerve palsy.There is guttering of the spaces between the metacarpalson the dorsum of the hand (9.123) caused by paralysis ofthe interossei, which are supplied by the ulnar nerve. Thepalm is hollowed out (9.124) and there is a zone of cuta-neous anaesthesia along the ulnar border of the hand, thefifth finger and the inner half of the fourth finger.

The patient with an ulnar nerve palsy is unable to flexthe little finger at the interphalangeal joints (using theshort flexor), adduct (using the palmar interossei) orabduct (using the dorsal interossei) the fingers in theaffected hand. The thumb is also affected because of paral-ysis of the adductor and short flexor muscles. The weak-ness of these two muscles can be revealed by the journaltest of Froment (9.125). The patient and the examiner holdthe opposite ends of a piece of paper between the thumband index finger and, as the examiner pulls gently thepatient tries to hold on to the paper by pinch-flexing the

thumb at the interphalangeal joint ('pinch-grip'), usingflexor pollicis longus (the median nerve, C8).

The corresponding elbow must be examined in everypatient with an ulnar nerve palsy for any evidence ofinjury, fracture, dislocation, scar (9.122, 9.126) or arthritis.A patient with osteoarthrosis of the elbow joint will beunable to touch his head with the hand, while keeping hisarm straight at the shoulder joint (9.127). The ulnar nervemay be involved in Hansen's disease (leprosy) producinga typical claw hand (9.128). In this condition the thickenedulnar nerve may be palpable in the ulnar groove at theelbow joint. The nerve may also be injured by penetratingwounds, and as a late sequel to callus or scar formation atany point along its course. Certain occupations such asroofing, carpentry and bricklaying are associated withosteoarthrosis of the elbow and injuries to the nerve in itsshallow olecranon groove (9.127).

The carpal tunnel syndrome is the commonest cause ofa median nerve palsy and is caused by compression of thenerve, as it traverses the tunnel under the thick and inelas-tic transverse carpal ligament. Flattening of the thenar emi-nence (9.129) is the hallmark of a median nerve palsy.Scalding of the index and middle fingers (9.130) resultingfrom loss of sensory perception is seen rarely today. Thediagnosis is made early on the strength of a good history(pain and numbness over the median nerve distribution,which is worse at night, often relieved by rubbing andhanging the arm out of bed) and by functional evaluationof the thumb and the outer two fingers (weak abductorpollicis and opponens pollicis). This condition is usuallyseen in middle-aged, obese females. It may be associatedwith pregnancy, myxoedema, acromegaly, rheumatoidarthritis, tophaceous gout and primary amyloidosis.

9.128Hansen's disease:ulnar nerve damageresulting in a clawhand

9.129The carpal tunnelsyndrome: atrophyof the thenar


182

The extended thumb and index finger, hollowing of thethenar eminence with the thumb on a level with the fingers,and the flat, even appearance of the palm, produce themonkey (or simian) hand (9.131).

In complete palsy of the median nerve in the forearm,the appearance of the hand and the forearm is character-istically flat on the flexor aspect, with slight ulnar deviationand loss of pulp in the affected fingers. The patient canbend the middle finger but not the terminal phalanx of thethumb and index finger (9.132), which requires the use offlexor digitorum profundus and flexor pollicis longus.Abduction of the thumb is weak and can be easily over-come (9.133) from paralysis of the abductor pollicis brevis.

Inability to make a complete fist by flexing the terminal

phalanges of the thumb and index finger (9.134) is causedby an injury to the anterior interosseous nerve, whicharises from the median nerve in the forearm. This nervesupplies the radial half of the flexor digitorum profundusand flexor pollicis longus.

A lesion of the posterior interosseous nerve (a majormotor branch of the radial nerve), which supplies thesupinator and the long extensors of the wrist and fingers, willresult in a wrist drop predominantly affecting the fingersand the thumb, which remain flexed and partially curled.When the forearm is supported in the supine position on atable, the patient will be unable to extend the thumb andfingers at the carpometacarpal and metacarpophalangealjoints (9.135). There is no sensory loss if the wrist drop is

9.130The carpal tunnelsyndrome: scalding ofthe anaesthetic fingers.Note the flattening ofthe thenar eminence

9.131Bilateral carpal tunnelsyndrome: the simianhand with atrophicthenar eminence andextended thumb andindex finger

9.132Median nerve injuryin the forearm: canonly bend themiddle finger whenasked to bend thefirst three fingers

9.133Median nerve palsy:unable to abduct thethumb againstresistance. Noteflattening of thethenar eminence

9.134Anterior interosseousnerve palsy: loss offlexion at theterminalinterphalangealjoints

9.135Right posteriorinterosseous nervepalsy: unable toextend the thumband fingers

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183

caused by a lesion (injury, compression) of the posteriorinterosseous nerve. Both the interossei nerves are liable toentrapment and trauma at the elbow and upper forearm.

Wrist drop (9.136), or a complete inability to extend thehand and fingers, is a cardinal feature of paralysis of theradial nerve. Even when the wrist is passively held straight,the fingers remain flexed at the metacarpophalangealjoints owing to paralysis of the long extensors (9.137). Thepatient is, however, able to straighten the interphalangealjoints (9.138) since these movements are affected by thelumbricals and interossei (the ulnar nerve). The grip isweak (9.139) because of the loss of synergistic extensionof the wrist; however, it improves if the hand is passivelydorsiflexed. Despite extensive cutaneous distribution ofthe radial nerve over the dorsum of the hand, the sensory

loss resulting from the lesion of this nerve may be limitedto the space between the first two metacarpals. This is dueto the overlapping supply from the adjacent median andulnar nerves.

Additional signs ofsystemic disordersIn some systemic diseases, helpful signs are found in thehands, which confirm the diagnostic significance of otherfeatures present elsewhere on the body. For example, inhepatic failure, there can be palmar erythema (9.140), peri-ungual erythema (9.141) and clubbing (9.142), which add

9.136Radial nerve palsy:wrist drop; unable toextend the wrist orthe fingers

9.137Radial nerve palsy:unable to extend thefingers

9.138Radial nerve palsy:the patient canstraighten the fingers(ulnar nerve) but notextend at themetacarpophalangealjoints

9.139Radial nerve palsy:unable to extend thewrist to grip tightly

9.140Hepatic failure:palmar erythema

9.141Periungual erythema


184

to the diagnostic weight of the jaundice and spider naevialready seen on the face. In such cases, the hands are exam-ined with a predetermined objective and care should betaken in scrutinizing the expected signs. Sometimes it iseasy to believe that a sign, which is needed to support asuspected diagnosis, is present. In cases of doubt and, wher-ever possible, the abnormal part should be compared withthe normal to look for any difference, as in this exampleof periungual erythema (9.143).

When the diagnosis of Turner's syndrome is made in ashort-statured female with a short, webbed neck, the handsshould be examined looking for hypoplastic nails and shortfourth and fifth metacarpals. In normal subjects the fourthfinger is almost always either equal to or longer than the

index finger. In this patient with Turner's syndrome(9.144), the right fourth finger is shorter than the indexfinger because of the shorter metacarpal in the former, andthe proximal phalanx can be seen to arise at a lower levelthan the other corresponding phalanges.

The syndrome of pseudohypoparathyroidism (tissueunresponsiveness to parathyroid hormone) may be sus-pected from the facial features (e.g. mental retardation,short stature, short neck, round face and abnormal teeth)but the hands can offer reassuring clues (9.145). The third,fourth and fifth metacarpals, or any one or two of them,are short, which can be readily demonstrated by compar-ing the abnormal hands with the (left) hand of a normalsubject placed on the right in Figure 9.146. The shortness

9.142Hepatic failure:clubbing of thefingers

9.143Normal handagainst two handswith periungualerythema

9.144Turner's syndrome: ashorter right fourthfinger

9.145 and9.146Pseudohypopara-thyroidism: shorterfourth and fifthfingers comparedwith the normalhand on the extremeright

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185

of the metacarpal can be revealed by asking the patient tomake a fist (9.147).

In the Lawrence-Moon-Biedl syndrome, the presenceof polydactyly (9.148) is associated with obesity, mentalretardation and hypogonadism. It is important to lookfor these additional features because polydactyly canbe present in a normal subject as an incidental finding(9.149).

Patients with Marfan's syndrome may be recognizedby their tall stature, dislocated lenses and a high-archedpalate; nevertheless, hands with arachnodactyly (long

webbed fingers) (9.150) provide convincing supportiveevidence.

The dominant biochemical feature of hypoparathy-roidism is hypocalcaemia, which is responsible for itssymptoms of neuromuscular hyperactivity and, in the longterm, for many of its clinical features (9.151).

Hypocalcaemia causes a decreased threshold of excita-tion in nervous tissues (latent tetany), which can bedetected by several simple procedures. Chvostek's sign iselicited by percussing the facial nerve just anterior to theear lobe, or just below the zygomatic arch, where it

9.147The dimple causedby the shorter fourthmetacarpal bone

9.148Lawrence-Moon-Biedl syndrome:polydactyly

9.149Polydactyly in anormal subject

9.150Arachnodactyly


186

emerges from the parotid gland. This may result in twitch-ing at the corner of the mouth (which sometimes occurs innormal subjects), or in a more extensive contraction of thefacial muscles.

Trousseau's sign is elicited with a sphygmomanometercuff inflated around the arm to just above the systolicblood pressure for approximately 5min (9.152). A typical

carpal spasm (painful flexion of the metacarpal joints andadduction of the thumb across the palm) (9.153), whichrelaxes approximately 5 s after the cuff is deflated (and notinstantly), constitutes a positive response.

The clinical features found in the hands of patients withendocrine disorders have been referred to earlier (Chapter1). When an endocrine disease is suspected, the entire

9.151Clinical features ofhypopa rathyroid ism

Intracranial calcificationMental retardationPapilloedema

Round face

Tetany-

Short third, fouthand fifth metacarpals

Coarse, dry hair

Epilepsy

Cataracts

Positive Chvostek's sign

Thyroidectomy scar

Evidence ofassociatedAddison's diseaseHypothyroidism

Moniliasis of nails

Soft tissue calcification

Short stature

9.151

9.152 and9.153Tetany inhypopa rathyroid ism:eliciting Trousseau'ssign

THE HANDS

upper limbs should be inspected for helpful clues. Forexample, areas of friction and scars (9.154) should beexamined for the presence of pigmentation in Addison'sdisease.

Thyroid acropachy (9.155) may resemble clubbing of thefingers but there is no thickening and swelling of the nailbed.

Purpura seen on the thin and transparent skin of thedorsum of the hands (9.156) is an important feature ofCushing's syndrome. The diagnosis of acromegaly is

strengthened by the demonstration of the thickened skinon the dorsum of the large and square, spade-like podgyhands (9.157).

Diabetic patients can develop specific skin lesions as dis-cussed in Chapter 11 (see p. 217). While necrobiosislipoidica diabeticorum occurs chiefly on the legs, granu-loma annulare, which is not specific to diabetes mellitus,occurs both on the upper (9.158) and lower extremities. Ageneralized form of granuloma annulare has been associ-ated with diabetes mellitus, and the cutaneous lesions

9.154Addison's disease:pigmentation aroundan old scar

9.155Thyroid acropachywith periungualtufting

9.156Cushing's syndrome:purpura and thin,transparent skin

9.157Acromegaly: large,square, spade-likehands

9.158Granulomaannulare: a well-defined darkish-reddermal plaque


188 (9.159) may precede the diagnosis of the disease. Diabeticdermopathy (maculopapular lesions) may occur anywhereon the body (see 11.20; p. 219) but these spots often remainundiagnosed in busy diabetic clinics. Rarely, diabetic pati-ents can develop blisters on exposed areas (epidermolysisbullosa), and these may be confused with porphyria. Forthis reason, it is sometimes referred to as pseudoporphyria(9.160). The blister is usually preceded by erythema, leaksserous fluid and collapses leaving a parched, whitish mem-brane covering the denuded area (9.161, 9.162).

Raynaud's disease has been referred to earlier in thissection. Raynaud's phenomenon must be distinguishedfrom acrocyanosis in which sustained cyanosis of the wholehand, rather than pallor or cyanosis of the digits, is a char-acteristic feature (9.163). Acrocyanosis is a rare primarydisorder of unknown aetiology, characterized by persistentcyanosis of the hands (less frequently of the feet) withreduced temperature. The cyanosis is intensified with expo-sure to the cold. Trophic changes and ulcerations areuncommon but may occur (9.163, 9.164).

9.159Generalizedgranuloma annulare:multiple, annular,arciform or singlereddish papules

9.160Pseudoporphyria:erythema and ablister containingserous fluid

9.161 and 9.162Pseudoporphyria indiabetes mellitus:erythematous skinand ruptured blisters

9.163 and 9.164Acrocyanosis: duskyskin with ulcerationin terminal digits

THE HANDS 9

The presence of unequivocal clubbing of the fingers canbe used as strong support for diagnosing an associated con-dition; however, care must be taken not to accept the diag-nosis with insufficient evidence. The primary conditionshould be diagnosed on sound clinical grounds, and thepresence of clubbing should be taken as an additionalfeature, as in this case of cystic fibrosis (9.165).

Miliary sarcoidosis consists of groups of dusky redpapules, 1-5 mm in diameter, on the face and arms (9.166)and is usually associated with pulmonary involvement.

Dupuytren 's contracture, particularly in association with

palmar erythema (9.167), is usually linked with alcoholiccirrhosis but can also occur in diabetes mellitus, gout andepilepsy. It is usually bilateral, favours Caucasian males,and occurs more frequently in some occupations such asgardening and shoemaking.

A dusky-red colour of the skin may be particularlynoticeable on the face (see 1.293; p. 58) and the hands(9.168), due to high haematocrit in cutaneous circulationin polycythaemia rubra vera. Patients with theEhlers-Danlos syndrome, because of their excessive jointlaxity, can perform circus tricks with their hands (9.169).

9.165Cystic fibrosis withclubbing of thefingers

9.166Miliary sarcoidosis:multiple, brownish-red papules

9.167Dupuytren'scontracture withpalmar erythema

9.168Polycythaemia rubravera: diffuse, dusky-red skin

9.169Ehlers-Danlossyndrome:demonstration ofjoint laxity


190

Fundamental signs

Fundamental signs are those clinical features that areinvariably associated with one or more diseases; forexample central cyanosis suggests a cardiopulmonary dis-order or an arteriovenous fistula, an extensor plantar sug-gests an upper motor neurone lesion, and pale conjunctivasuggests anaemia or a low cardiac output state. This sectiondiscusses those critical signs in the hands that point toabnormalities present elsewhere in the body. Such signsshould be accepted only after applying very stringent cri-teria: self-criticism and not self-congratulation should bethe guiding principle in the critical evaluation of a funda-mental sign. Equivocal and doubtful findings should not beregarded as a basis for a diagnosis, nor should a funda-mental sign be assumed to be present just because a

related primary disorder has been diagnosed by othermeans.

Clubbing of the fingers is one of the many fundamentalsigns found in the hands and the one most abused by'expert' clinicians. One constantly hears of 'early', 'slight'and 'mild' clubbing but never that 'early' has become'late' clubbing, or that the slight beaking of the nailsnoted initially has become drumstick clubbing. The handsshould be viewed from the front (9.170) as well as from theside (9.171), and clubbing should never be accepted unlessthere is a definite swelling of the nail bed (9.172). It is thethickening and oedema of the nail bed that lifts the nail,thereby obliterating the angle between the proximal nail-fold and the nail (9.173) over which fluctuation can beelicited.

Clubbing of the fingers can become a stronger sugges-tive sign, for example, in fibrosing alveolitis, when it is asso-

9.170Clubbing. Note theraised nail plates atproximal nailfolds

9.171Clubbing: thickenednail bed raising theroot of the nailwhich is in a straightline with the finger

9.172Clubbing: thickenednail bed giving thethumb a bulbousappearance

9.173Clubbing: curvednails obtusely set atthe proximalnailfold. Note therounded appearanceof the thumb causedby a thickened nailbed

THE HANDS

191

dated with cyanosis of warm fingers (9.174, 9.175). Thepresence of cyanosis can be confirmed by looking at thetongue and by comparing it with a normal tongue (see2.72, 2.73; p. 81). Similarly, nicotine staining of the fingersin association with clubbing (9.176) may be a strongpointer when a diagnosis of a bronchogenic carcinoma isbeing considered.

Tuberous xanthomata over the tendons of the knuckles(9.177, 9.178) suggest that the patient has familial hyper-

cholesterolaemia. Further search over the extensortendons may prove rewarding and similar swellings may befound over the elbows (9.179). A positive family history ofhypercholesterolaemia and/or of coronary heart disease ina first-degree relative before the age of 50 years is usuallyfound.

A change in the normal pink colour of the palmarcreases in a Caucasian subject is significant. Pallor of thecreases, demonstrable by blanching, suggests anaemia, and

9.174 and9.175Fibrosing alveolitis:clubbing of thecyanosed fingers

9.176Nicotine-stainedfingers and clubbing

9.177Familialhypercholesterolaemia:tuberousxanthomata

9.178 and9.179Tuberousxanthomata:reddish-yellow,subcutaneousnodules attached tothe tendons


192

the discovery of pigmentation (9.180, 9.181) may suggestAddison's disease. Some Caucasian patients with thisdisease or Nelson's syndrome (an adrenocorticotrophichormone (ACTH)-producing pituitary tumour that devel-ops after bilateral adrenalectomy for Cushing's syndrome)develop a brownish discolouration of the nails.

If the creases show a yellowish hue (9.182), they shouldbe inspected more closely for the presence of planar xan-

thomas (9.183,9.184), which are a valuable sign of type IIIhyperlipidaemia, and also sometimes of chronic obstruc-tive liver disease. In the former condition there is a defec-tive conversion from very low-density lipoprotein (VLDL)remnants to low-density lipoproteins (LDL), where bothcholesterol and triglycerides accumulate in the blood. Inthe absence of planar xanthomata, a yellowish tinge ofthe palms may be caused by carotenaemia (9.185). This is

9.180 and9.181Addison's diseasewith pigmentation ofthe fingers andpalmar creases

9.182Palmar creases withfaint, yellowish tint

9.183 and9.184Type IIIhyperlipidaemia:planarxanthomatosis

THE HANDS

caused by the presence of carotene in the circulating bloodfrom excessive carrot consumption. Unlike in jaundice, thisyellow discolouration does not affect the sclerae.

Erythema nodosum (9.186) and nodular panniculitis(Weber-Christian disease) (9.187) are both fundamentalsigns since they have associations with systemic disorders.They are difficult to distinguish from each other since theyboth arise in deep subcutaneous fat as tender red nodules;usually both occur on the legs, although erythemanodosum has a predilection for the pretibial areas. Ery-thema nodosum is discussed further in Chapter 11 (see11.120-11.124; pp. 239-41).

Weber-Christian disease affects subcutaneous and vis-ceral fat in the lungs, kidneys, liver, intestines, bone marrowand adrenal glands. Patients may present with arthralgia,malaise, fatigue, cutaneous nodules and abdominal pain.Anaemia, leucopenia, hepatomegaly, steatorrhoea andintestinal perforation have all been reported. The mouth

should always be examined as there may be ulceratednodules on the tongue (9.188).

The hands and arms should be carefully viewed for thewell-known cutaneous stigmata of various systemic disor-ders (e.g. infective endocarditis, vasculitis, coeliac disease,porphyria, mycosis fungoides, syphilis, etc.) in which theskin lesions may be the only manifestation or may precedethe systemic disease. The signs that follow are included inthis section because of their relative specificity for the dis-eases with which they are associated.

Osier's nodes are red, tender, cutaneous nodules thatoccur on the pads of the fingers (9.189, 9.190) and toes,palms (9.191) and soles (see 11.129, 11.130) in bacterialendocarditis. Although first described in association withinfective endocarditis, and always looked for in thisdisease, Osier's nodes are not pathognomonic of this con-dition since they also occur in typhoid fever, gonococcalinfection and systemic lupus erythematosus.

9.185Carotenaemia:global yellowish tint

9.186Erythema nodosum:subcutaneousnodules with ill-defined erythema ofthe overlying skin

9.187 and9.188Weber-Christiandisease:subcutaneousnodules witherythema of theoverlying skin andlingual ulers

9.189Infectiveendocarditis: reddishnodules on thefinger pulps

9.190A collection of smallcutaneous nodulesrepresentingmicroemboli


194

Vasculitic lesions (9.192) occur in a variety of vasculitides(see p. 56). Macules, papules, purpura and even urticariallesions are seen in association with these disorders. Small,nodular lesions may be seen on the pads of the fingers ina patient with systemic lupus erythematosus (9.193).

Erythematous lesions, blisters, scabs over collapsedvesicles (9.194) and a history of itching that precedes theappearance of the eruption are all strongly suggestive ofdermatitis herpetiformis. In approximately two-thirds ofcases a duodenal biopsy may show the mucosal changesresembling gluten enteropathy. Although the malabsorp-tion syndrome with all its manifestations develops in onlya few patients, a low body weight, low serum folate and/or

iron level with concomitant episodic diarrhoea occur inmost patients.

The hands, because of their constant exposure tosunshine and trauma, are one of the principal sites thatexhibit the cutaneous manifestations of the porphyrias(see 1.249-1.255; pp. 49-50). Cutaneous photosensitivity,unusual fragility of the sun-exposed skin, bullae, shallowulcers, disordered pigmentation and hypertrichosis occurin almost all varieties. Disfiguring scars with loss of partsof the fingers (9.195) from repeated trauma are seen incongenital erythropoietic porphyria.

Blisters, when present, are easy to see on chronicallyfragile skin (9.196) but more often they may have ruptured

9.191Tender, brownish-redcutaneous nodules

9.192Vasculitis: multiplemaculopapularlesions ('palpablepurpura')

9.193Small, bluish, faded,erythematousnodules

9.194Dermatitisherpetiformis:groupederythematous lesionsand ruptured blisterswith scabs

9.195Congenitalerythropoieticporphyria: scarring,hypopigmentationand loss of fingertips

9.196Porphyria cutaneatarda: intact andruptured blisters onsun-exposed hands

THE HANDS

195

leaving behind ulcers at various stages of healing (9.197,9.198) and scars with indurated, white papules (milia)(9.199, 9.200). These changes occur in both variegate por-phyria and porphyria cutanea tarda but are more common,and often more severe, in the latter where the skin usuallyshows evidence of chronic trauma, hypo- and hyperpig-mentation (9.201). As in other forms of hepatic por-phyrias (e.g. acute intermittent porphyria, hereditarycoproporphyria), the occurrence of acute neurological

attacks is the most important clinical feature in variegateporphyria.

The cutaneous changes of porphyria cutanea tardaalso occur in association with hepatoma, renal failure withhaemodialysis, systemic lupus erythematosus, haemochro-matosis and diabetes mellitus. In many of these cases,no increase in tissue porphyrins has been reported, thus thesyndrome is termed pseudoporphyria (see 9.160-9.162).

Mycosis fungoides is a type of T-cell lymphoma that

9.197Ruptured blisterswith denuded red

9.198Thin, wrinkled skinand a rupturedblister

9.199Milia: scars withindurated whitepapules

9.200Porphyria cutaneatarda: intact andruptured blisters andmilia

9.201Ruptured blisters,hypopigmentationandhyperpigmentation


196

begins in, and remains limited to, the skin for many years.The lesions are usually pmritic and appear as well-circumscribed, reddish or brownish, circular, annular, orarciform in shape (9.202,9.203). At a later stage, which maybe as long as 40 years, ulcers and tumours appear. Extra-cutaneous disseminated disease initially involves thelymph nodes and then, in advanced stages, the liver, spleenand other internal organs.

In secondary syphilis, a characteristically polymorphicmaculopapular rash appears all over the body, but moreparticularly on the palms and soles, approximately 4-8 weeks after the appearance of the primary chancre.The papules are pink, dusky, brownish-red or coppery,indurated, oval or round and often scaling. They are usuallyscattered on the palms (9.204) but may also be present onthe face (9.205).

9.202 and9.203Mycosis fungoides:patch stage -generalized, flat,reddish-brownplaques with somescaling

9.204 and9.205Secondary syphilis:papulosquamouslesions on palms,fingers and face -discrete, copper-coloured, keratoticpapules

10 THE NAILS197

The nails are involved in many dermatological and sys-temic disorders, and therefore they should be scrutinizedcarefully at the same time as examination of the hands.Some anatomical considerations of the nail and its associ-ated parts are necessary for the understanding of itsdisorders. The nail plate is composed of many layers offlattened, keratinized and fused cells; it is attached to, andprotects, the pink nail bed (10.1,10.2).

The half-moon shaped lunula is white because thesurface cells of the underlying nail bed in this proximalarea are only partially keratinized; the distal pink area is

not keratinized at all. The lunula is of variable size in dif-ferent fingers (10.3) and sometimes absent altogether(10.4) without any clinical significance. The nail plate isenveloped at its origin by the proximal nailfold, which iscontinuous with the lateral nailfold on either side of thenail (10.2). The nail plate is attached firmly to the nail bedexcept distally where it separates from the underlyinghyponychium (10.5). Healthy nails protect the fingertips,enhance their fine tactile appreciation, and are used asinstruments to relieve itching and to open tightly fitting lidsof containers.

10.1A normal nail

10.2Components of anormal nail

10.3Nails: variable sizesof crescentic lunulae

10.4Absent lunulae

10.5Lateral view of anail plate andhyponychium


198

Disorders of the nailsThe nails are expected to share some of the skin diseasesbecause of their close embryological and anatomicalrelationship to the skin. They can also be affected in somegeneralized systemic disorders.

Dermatological diseasesThe commonest skin diseases to cause abnormalities of thenails are psoriasis followed by lichen planus; in either casethe nails may be affected in the absence of any skin lesions.The commonest infections affecting the nails are Candidaspp. and tinea.

Psoriasis, during its entire course, affects the nails inover 80% of cases. Pitting (onychia punctata), discoloura-tion and onycholysis (10.6,10.7) are by far the commonestnail abnormalities. The changes in the nail plate depend onthe location and extent of the parakeratotic process, whichcan cause gross abnormalities in colour, shape and texture.The pits vary in size and often spare the toenails. Othercauses of pitting include alopecia areata, eczema and pity-

riasis rosacea but diffuse and deep pitting is almost exclu-sive to psoriasis.

Parakeratotic lesions may involve the nail bed andhyponychium, producing reddish spots of varying sizes.There may also be splinter haemorrhages (10.8), which areseen in over one-third of the cases. Thickening and ony-cholysis (separation of the nail plate from its bed) (10.6,10.9) are common findings; the whitish colour is indicativeof the presence of air under the separated part of the nail.

The nails are affected in approximately 10% of patientswith lichen planus. The most characteristic feature isvertical ridging of the nail caused by small foci of lichenplanus in the matrix, producing depressions or bulges(10.10, 10.11). This bulging may be seen more proximallyin the skin, while the nails may also show pigmentation,longitudinal ridging and dystrophy (10.12). Thinning of thenail plate, with atrophy of the matrix (onychatrophy) andsubungual hyperkeratosis with onycholysis (10.13) alsooccur. These changes may lead to complete atrophy ofthe nail, spontaneous shedding and permanent anonychia.A characteristic change of lichen planus of the nails ispterygium in which the cuticle invades the nail bed (10.14).Pterygium is also found occasionally with ischaemicatrophy of the nail.

10.6Psoriasis: discrete,multiple pits withdistal onycholysis

10.7Diffuse pitting withstreaks ofonycholysis

10.8 and 10.9Psoriasis: splinterhaemorrhages,pitting anddystrophic changes

THE NAILS

Fungal infection of the nails (onychomycosis) is largelyan opportunistic invasion associated with the conditionsthat are favourable to these normal inhabitants of thebody, such as diabetes mellitus, immunosuppressive statesand the use of antibiotics, steroids and cytotoxic drugs. Apre-existing onycholysis and excessive moisture alsoencourage the fungal invasion. Candida albicans (monilid)is a normal inhabitant of the gastrointestinal tract (notusually found on the skin), and affects the mucous mem-branes (see 2.95-2.97; pp. 85-6) the nails and the moist flex-ural surfaces. C. albicans usually invades the skin aroundthe base of the nails (chronic paronychia) (10.15) and may

involve a part of the nail plate (sometimes without the pre-ceding paronychia), causing a dark brown pigmentation,ridging and dystrophy (10.16,10.17).

The infection caused by tinea (ringworm) is limited tohair, nails and the horny layer of the epidermis (see9.74-9.76; p. 171-2), since these organisms are unable topenetrate the deeper living cells. Ringworm of the nails iscommon, especially in the great toes (10.18, 10.19); it isusually caused by a species of Trichophyton (e.g. Tri-chophyton rubrum, T. interdigitale, T. unguium or T. menta-grophytes). In distal and lateral subungual onychomycosis(10.20), the fungus reaches the underside of the plate via

10.10 and10.11Lichen planus:vertical ridging anddistal dystrophy

10.12 and10.13Lichen planus:ridging,pigmentation,onycholysis andonychoatrophy

10.14Pterygium: cuticleinvasion and distalonychoatrophy

10.15Onychomycosis:distal onycholysiswith subungualhyperkeratosis. Notethe associated fungalinfection of theproximal nailfoldwith erythema andcrusting


200

the hyponychium or the lateral nailfold, raising the freeedge of the nail plate, with thickening and opacification.The disease spreads proximally and the whole nail platebecomes opaque (10.21,10.22). During this process thereis progressive dystrophy and onycholysis with the distalparts of the nails separating and falling off (10.23,10.24).

The clinical appearances of nail dystrophies are seldomdiagnostically distinctive for the different fungi; however,hyperkeratosis accompanying onycholysis is a commonfeature of dermatophyte (Trichophyton) infections. Con-

versely, in Candida onychomycosis, gross hyperkeratosis ofthe entire nail plate is usually seen in patients with chronicmucocutaneous candidiasis.

All the nails may become involved in a chronic, gener-alized dermatophytosis, with simultaneous invasion of thedistal ends of the nail plates (10.25,10.26). As the infectionprogresses, the distal end of the plate becomes hyperkera-totic and opaque, lifting off the nail bed (10.27). Thisprocess separates the entire nail plate from the deadkeratinized tissue on the nail bed (10.28). In advanced

10.16Distal and lateralsubungualonychomycosis

10.17Onycholysis andhyperkeratosis (distaland lateralsubungual types)

10.18 and10.19Tinea unguium:distal onycholysiswith subungualhyperkeratosis

10.20Onycholysis anddistal onychatrophy

THE NAILS

201

10.21 and10.22Total dystrophy:onycholysis withdiffusehyperkeratosis(yellowish and chalk-white discolouration)

10.23Hyperkeratosis withfracture of the nailplate

10.24Distal subungualhyperkeratosis

10.25 and10.26Distal onycholysisand hyperkeratosis

10.27Distal onycholysis

10.28Subungualhyperkeratosis withseparation of thenail plate


202

untreated cases, there results a total dystrophic ony-chomycosis whereby the nail disappears leaving behind athickened nail bed.

Congenital and systemicdisordersBefore linking any abnormality of the nail to a particulardisease, the clinician should take into consideration threeimportant preliminaries. First, the abnormality may be con-genital and may have attracted attention only because thepatient sought advice about an apparently related com-plaint. Hereditary and congenital nail disorders may beassociated with almost any deformity of the nail. Congeni-tal nail deformities may be summarized as follows:

Pachyonychia congenita;The nail-patella syndrome;Anonychia;Congenital ectodermal dysplasia;Racket nails;Leuconychia totalis;Congenital pitting/ridging/dystrophy;Hereditary koilyonychia;Congenital clubbing;Macronychia/micronychia.

A thorough personal and family history and a search forthe associated findings are essential for relating a nailchange to a systemic disorder.

Second, the nails are cosmetically important and theircondition (e.g. dirty, overgrown, bitten, discoloured,stained, unusually painted, etc.) gives important informa-

tion about the patient's personal hygiene and about his orher psychological and economic status.

Third, the nails should be examined as critically as anyother system. Clinicians often look at the nails as an after-thought when they have already suspected a systemic dis-order and then hope to find some well-known associatedsigns (e.g. clubbing, splinter haemorrhages, white nails,etc.) to confirm their diagnosis. An uncritical application ofthis practice in time assumes a procrustean fervour, whennonexistent signs are accepted with compromising qualifi-cations such as 'slight', 'mild' and 'early'. A more orthodox,and invariably safer, approach is to examine the nails aspart of the general examination looking for any abnormal-ities of shape, colour and size of the nails, nailfolds and nailbeds. Any clues detected at this stage will form the basison which a diagnosis can be constructed after completionof the systemic examination.

As already mentioned, the nails can be affected by manycongenital abnormalities some of which (e.g. hereditaryectodermal dysplasias) are clinically important in theirown right. In anonychia congenita (10.29), all or part of thenails may be absent, and some of these underdevelopedplates may be thin and ridged, resembling the onychatro-phy of lichen planus (10.30). It may be impossible to makethe distinction between the two, particularly as the nailchanges may precede the other cutaneous manifestationsin lichen planus. Figure 10.30 also shows the pterygium socharacteristic of lichen planus.

Koilonychia, or spoon nails, may be familial (10.31) oracquired (10.32). The former may be a lone finding or asso-ciated with other ectodermal dysplasias or the nail-patellasyndrome. Acquired koilonychia is found in many condi-tions as follows:

10.29Congenitaldeficiency of the nailplates

10.30Congenitalonychatrophy. Notethe cuticle invasionof the nail plate(pterygium)

THE NAILS

Hereditary and congenital forms— Ectodermal dysplasias;— Adenoma sebaceum;— Osteo-onychodysplasias (the nail-patella

syndrome).Acquired forms— Iron deficiency states (e.g. Plummer-

Vinson syndrome, polycythaemia rubravera);

— Haematological (e.g. haemoglobinopathy,haemochromatosis);

— Infections (e.g. fungal diseases);— Endocrine disorders (e.g. acromegaly,

hypothyroidism);— Traumatic;

— Malnutrition;— Dermatoses (e.g. lichen planus, acanthosis nigricans,

psoriasis);— Connective tissue diseases;— Carpal tunnel syndrome.

Koilonychia is easy to recognize because the nails areconcave (normally convex) with everted edges (10.33). Itusually affects several fingers, especially the thumbs. Someclinicians use the water-drop test (10.34) as a criterion foraccepting koilonychia. This is not necessary as the nailsclearly look concave and abnormal. The concavity can bebest appreciated when the affected thumbs are held tip-to-tip and viewed laterally, compared with the similarly heldthumbs of the examiner (10.35,10.36).

10.31Congenitalkoilonychia

10.32Acquiredkoilonychia (spoonnails)

10.33Koilonychia withconcave nail platesand everted edges

10.34Koilonychia. Notethe unspilled waterdrop on the concavenail of the indexfinger

10.35Koilonychia

10.36Normal nails


In some forms of congenital koilonychia, the nailstend to be thin and underdeveloped (10.37). In acquiredkoilonychia, the nails may be thin or thickened (10.38),there may be longitudinal ridging (10.39), the underlyingtissue may be healthy, or there may be subungual hyper-keratosis, which is easily seen at the free margin.

In pachyonychia congenita, the nails are very hard andyellowish-brown in colour (10.40). At the free edge thereis a hard keratinized mass. All nails are affected andvulnerable to recurrent paronychia.

Epidermal and dental abnormalities are associatedin two groups of ectodermal dysplasia; one of these hasdefective sweat glands (anhidrotic) and is transmittedthrough a sex-linked recessive gene; the other is auto-somal dominant and associated with normal sweating(hidrotic ectodermal dysplasia). In the latter, the hairis sparse, thin and brittle (10.41) and the nails are dis-coloured and dystrophic (10.42). Unlike the anhidroticvariety, the teeth and sweating are normal but the nailsand hair (10.43) are almost always involved. In the

10.37Congenitalkoilonychia withpoorly developednails. Note the fleshyfingertips uncoveredby nails

10.38Thickened nail platewith distalhyperkeratosis

10.39Congenitalkoilonychia withlongitudinal ridging

10.40Congenitalpachyonychia withdeficient, thickened,yellowish-brown

10.41 and10.42Ectodermaldysplasia: sparse,thin, spindly hairand thin, discolourednails with invertededges

THE NAILS

• ' -^^^j^^^^^m

10 1

anhidrotic form the teeth, sweating, hair and skin alltend to be abnormal.

Clubbing of the fingers, which is often subjected to clini-cal compromise, has been referred to in the precedingsection. It will be considered here only for its relevance tothe shape of the nail plates. There is longitudinal, as wellas transverse, convex curvature of the nail plate (10.44)and an enlargement of the soft tissues of the nail bed (10.45).A critical comparison of this resulting deformity (10.45)with the profile of a normal finger (10.46) will show thatthe angle between the proximal nailfold and the curvednail plate (Lovibond's 'profile sign') is increased fromthe normal 160° to over 180°. In the normal finger, the

distal phalanx forms an almost straight line with themiddle phalanx, whereas in the clubbed finger this angleis reduced to around 160° (Curth's modified 'profilesign').

It cannot be overstressed that these angles are used tomeasure the degree of deformity caused by swelling of thenail bed, and should not be used if the only abnormalityobserved is an increased curvature of the nail plate. Mis-takes in diagnosing false clubbing can be avoided if thefingers are viewed in profile from the radial side, lookingfor the presence of swelling of the nail bed (10.47). If thereis associated cyanosis of the warm fingers, as was the casein this patient with fibrosing alveolitis (10.48), or periun-

10.43Ectodermaldysplasia: sparsehair and thin,somewhat concavenails

10.44Clubbing of thefingers

10.45Clubbing withthickened nail bedgiving the fingertipsa bulbousappearance

10.46Normal nail bed

10.47Clubbing of thefingers viewedlaterally

10.48Clubbing withcyanosis of thefingers


gual erythema (10.49), then these can provide additionalsupport for a confident diagnosis. Nevertheless, the diag-nosis of clubbing should be a primary event (based on theappearance of the fingers) as it should be for all funda-mental signs.

Congenital clubbing (10.50) may be indistinguishablefrom the acquired form but there is often a history avail-able that shows that the peculiar shape of the nails wasnoted during early childhood.

As stated earlier, some general but very important con-clusions can be drawn from the appearance of the nails.Overgrown nails (onychogryphosis) on dry and unwashedtoes (10.51) say a lot more than is said by the relativesabout the patient being a cynosure of a caring and lovingfamily. In these cases, as in the occasional congenital form,

the big toe is usually involved and the nail may look likea buffalo's horn (10.52). The surface of the overgrown nailis marked by transverse striations. Fungal infection mayoccur and further distort the nails.

Nicotine staining is seen as a brown discolouration with ayellowish tint on the fingertips and nails (10.53). For stain-ing to occur the fingers need to be exposed to a colouringagent, which comes from nicotine (usually 20 or more ciga-rettes a day), in the presence of moisture provided by sweat-ing in patients of anxious disposition. However, nicotinestaining can also occur in subjects who are not habituallyanxious. Recurrent friction by cigarettes may cause callousformation as seen on the dorsum of the middle finger(10.53); the associated clubbing of the fingers tells its owntale in this patient with a bronchogenic carcinoma.

10.49Clubbing withperiungual erythema

10.50Congenital clubbingof the fingers

10.51 and10.52Onychogryphosis:overgrown nails withpoor local hygiene.Note the transverseridging

10.53Nicotine-stainednails and fingers.Note the associatedclubbing

10.54Onychophagia:habitual nail biting

THE NAILS

Nail biting, or onychophagia (10.54), is thought to be amanifestation of an anxious personality among the subjectsseeking medical advice. The nail growth is increased as aresult of this but it does not keep pace with the frequentbiting during periods of stress, thus resulting in short andovercut nails in all fingers (10.55). A close examination willoften reveal teeth marks on the short and thin, free edge(10.56).

In the general population there are many nail-bitingchildren and adults who are normal and do not have anyevidence of psychiatric disease. However, spells of anxiety,boredom, mental concentration, stress, contemplation anddepression are all associated with an increased tendency tonail biting. Some subjects devour the nail and cuticle ofonly one or two selected fingers (10.57).

Splinter haemorrhages are assiduously looked for by

medical practitioners when examining the nails and, whennot found, are often mentioned as a negative sign in thefinal MB and higher examinations. In fact, they are neitherspecific for, nor very common in, infective endocarditis(less than 5%). It is often said that proximal splinter haem-orrhages have more diagnostic validity but there is no evi-dence to support this. Most splinter haemorrhages (fromany cause) occur in the distal one-third of the nail (10.58)where they originate from the special, spirally wound cap-illary, which can be seen as a pink line through the nailabout 4mm proximal to the tip of the nail.

A discrete haemorrhage in that area seen under ahealthy and nontraumatized nail (10.59) should alwaysarouse suspicion about an associated disorder, as was thecase in this patient with infective endocarditis. In this con-dition, splinter haemorrhages are thought to be embolic in

10.55Onychophagia:short and overcutnails

10.56Overcut nail withteeth marks on thefree edge

10.57Onychophagia: thedisfigured nailssuggest that theentire nail plates ofthese two fingers arehabitually attacked

10.58Splinterhaemorrhage

10.59Splinterhaemorrhage

10.60Traumatic splinterhaemorrhages. Notethe whitish streakscaused by trauma


208

origin and, sometimes, there may be several and in morethan one finger. Distal splinter haemorrhages close to thefree edge with some evidence of trauma (10.60) are easyto distinguish from those of a sinister origin. Occasionally,there may be a subungual haematoma and the capillariesof the fingertip may also be involved (10.61). Splinterhaemorrhages have been reported in many conditions, butthey are most frequently seen after trauma to a nail (10.60)and in psoriasis (10.62; see also 10.8). The conditions asso-ciated with splinter haemorrhages may be summarized asfollows:

• Trauma (e.g. occupational hazard);• Septicaemia (e.g. infective endocarditis);• Skin diseases (e.g. psoriasis, onychomycosis, Behcet's

disease);• Metabolic (e.g. porphyrias, haemochromatosis,

haemodialysis);• Vascular (e.g. vasculitides, Buerger's disease,

hypertension, cryoglobulinaemia, Raynaud's disease).

A subungual haematoma may be spontaneous as in infec-tive endocarditis (10.61) or may appear acutely aftertrauma, and may involve the nails of the fingers or toes(10.63).The accumulated blood under the nail plate usuallyproduces pain and needs to be drained. Successful treat-ment prevents secondary dystrophy of the nail plate andencourages its normal regrowth. A casual glance mightconfuse a naevus (10.64) with a subungual haematoma;however, the former is painless, is present from birth andhas a sharper violaceous hue that does not change with time.

The median nail dystrophy consists of a symmetricallongitudinal defect of the nails of the thumbs (10.65)although sometimes it may involve other fingers. It maybe associated with an enlarged lunula. The aetiology isunknown; familial cases have been reported and, in somecases, it may be caused by self-induced trauma.

In the yellow nail syndrome, the characteristic appear-ance of the nails (10.66) is often accompanied by lym-phoedema and pleural effusions. The clinical triad consistsof yellow and dystrophic nails, lymphatic abnormalities

10.61Subungualhaematoma in apatient with infectiveendocarditis

10.62Psoriasis withmultiple splinterhaemorrhages

10.63Subungualhaematoma causedby trauma

10.64Congenital naevuswith violaceousstreaks

THE NAILS 1209

(e.g. aplasia, ectasia, lymphangitis, lymphoedema) andsystemic illness (e.g. pleural effusion, bronchiectasis) ora malignancy (e.g. Hodgkin's lymphoma, melanoma). Thenails are extremely slow growing, thickened and exces-sively curved from side to side (10.67), leaving spare fleshylateral nailfolds and fingertips beyond the stunted nails(10.68).The colour is usually pale yellow but may be brownor green with a yellowish tint (10.69,10.70).

The nychial changes are specific to the diagnosis but maylag behind or even precede the other manifestations.Unexplained ankle oedema (often asymmetrical) and

recurrent unexplained pleural effusions may occurbefore the development of the characteristic nail changes.Alternatively, lymphoedema and a pleural effusionmay not be seen for years after the nail changes, eventhough the abnormal nails are thought to be the resultof defective lymphatic drainage. Atresia and hypoplasiaof the peripheral lymphatics have been demonstratedin many patients. Occasionally, the syndrome may beassociated with bronchiectasis, thyroid disorders, in-creased susceptibility to skin infections and asymmetricalbreasts.

10.65Median dystrophywith large lunulae

10.66The yellow nailsyndrome: yellowish-dark undergrownnails

10.67 and10.68The yellow nailsyndrome: yellowish-dark, stunted nailswith fleshy, bulbousfingertips

10.69 and10.70The yellow nailsyndrome: yellowish-green, dystrophicnails


210

The nail-patella syndrome (osteo-onycho-dysplasia) ischaracterized by an absent patella (90%) and thin, fragile,deficient or absent nails. The changes are most marked inthe thumbs (10.71,10.72).The lunula may be absent (10.71)or V-shaped (10.72,10.73). Other associated features are asmall head of the radius, iliac crest exostosis and develop-mental abnormalities in the eyes and kidneys.

The white nails of hepatic cirrhosis exhibit a uniformopaqueness extending from the base of the nail curtainingover and obscuring the lunula. It stops short a few mil-limetres from the distal border of the nail, leaving a normalpink zone. The changes tend to be more marked in thethumb and index finger though all fingers may be equally

affected (10.74). The appearance of the nails in 10.75 iscalled the 'half-and-half nail (also known as Terry's nail).The distal half to one-third is pink and sharply demarcatedfrom the proximal two-thirds, which is dull and white andobliterates the lunula. It may be a manifestation of hypoal-buminaemia associated with hepatic cirrhosis. Half-and-half nails are found in 10% of patients with the uraemia ofchronic renal failure.

Striate leuconychia, transversely (10.76) or longitudi-nally (10.77), may occur in one or more fingernails. Thiswhitening resembles that seen in superficial onychomyco-sis but no fungi are isolated in culture. One-quarter ofpatients with systemic lupus erythematosus show a variety

10.71 and10.72Osteo-onychodysplasia:thin, fragile nails.Note absent lunulaein 10.71

10.73Osteo-onychodysplasia:thin nails with V-shaped lunulae

10.74Leuconychia

10.75'Half-and-half' nails

10.76 and10.77Striate leuconychia:transverse andlongitudinal whitishstriations in a patientwith systemic lupuserythematosus

THE NAILS

211

of nail changes, including striate or longitudinal leucony-chia, pitting, ridging, onycholysis, splinter haemorrhages,nailfold telangiectasis and infarcts (10.78).

Transverse sulci, or Beau's lines, affecting the surface ofall the nails at corresponding levels (10.79) represent atransient arrest of nail growth caused by an illness. As thegrowth rate is around O.lmm a day, it is possible to esti-mate the approximate time of the previous illness that hasmarked the nails (5 months in 10.79).

Perionychial tissues (nailfolds and cuticles) are subjectto both trauma and the extreme variations of temperatureand hydration caused by their exposure to the elements.Painful cracks occur in the nailfolds and cuticle (10.80) as

a result of exposure to cold and frosty winds. The traumamay be self-inflicted, causing erosions of the nailfolds inassociation with neurosis and depression. This may be animportant consideration when assessing the other symp-toms of a patient. Some systemic disorders are also asso-ciated with abnormalities in the perionychial tissues.

In dermatomyositis, characteristic nailfold erythema,telangiectasia and infarcts are seen (10.81, 10.82). Thecuticle is rough, thickened and irregular, and there aredilated capillary loops on the proximal nailfold. Thesechanges are specific and show remissions and exacerba-tions in keeping with the severity of the disease processelsewhere in the body.

10.78Systemic lupuserythematosus: anulcerated nailfoldinfarct

10.79Beau's lines

10.80Fissuring of thenailfold caused byexposure to cold

10.81 and10.82Dermatomyositis:periungal erythema,nailfold infarct (leftthumb) and fadingGottron's papules onthe interphalangealjoints


212

Palmar and periungual erythema and nailfold infarcts arecommon in patients with rheumatoid arthritis (see also9.12-9.14; p. 159). Digital arteritis causes obliteration of thevessels resulting in small infarcts in the nailfolds (10.83,10.84). Nailfold infarcts occur more frequently on the radialborder of the index finger and the ulnar aspect of the thumb(10.84). There is a close correlation between pressure areasand vasculitis; lesions can be seen on top of the cutaneousnodules, especially at the elbow (see 9.43; p. 165).

A large variety of abnormalities including onycholysis,longitudinal striations, absent lunulae and periungual in-

farcts have all been reported in systemic sclerosis and mixedconnective tissue disease (see also 9.82-9.93; p. 173-5).Nailfold infarcts and ulcers on the terminal digits (10.85,10.86) are a frequent occurrence in these two conditions.Digital ischaemia may cause dystrophy of the nails (10.87).

Discolouration of the nails, onycholysis and absentlunulae (10.88, 10.89) can occur in porphyria cutaneatarda, as well as in other forms of porphyria. Transverseleuconychia on brownish nails is seen in erythropoieticprotoporphyria. Koilonychia can also occur and mayprecede any of the other cutaneous manifestations. Bullae,

10.83 and10.84Rheumatoid arthritis:periungal erythemaand nailfold infarcts

10.85 and10.86Systemic sclerosis:nailfold infarcts andulcers

10.87Onychodystrophy

THE NAILS 10213

the hallmark of porphyria, may occur underneath the nailplate and these may become infected.

A bluish discolouration of the normally white lunulasuggests chronic cyanosis as in this patient with Eisen-menger's syndrome who also has cyanosis and clubbing ofthe fingers (10.90). Darker blue lunulae are sometimesfound in patients on antimalarial drugs or minocycline.They are also associated with haemochromatosis, Wilson'sdisease and ochronosis.

Muehrcke's nails (10.91) are characterized by paired,narrow, horizontal white bands, separated by normal, pinkbands; both of these remain immobile as the nail grows.

These nails are seen mostly in patients with hypoalbu-minaemia associated with nephrotic syndrome. Curiously,their presence correlates with low serum albumin levelsbut the mechanism of this relationship is not known.

Periungual and subungual fibromas (Koenen's tumours)(10.92,10.93) usually appear after puberty in tuberous scle-rosis (epiloia). These fibromas are an important marker ofepiloia and usually arise in the periungual groove, as grain-shaped growths, which then extend over the nail plate.They are said to occur as frequently as renal hamartomasin this condition. In some patients a periungual fibromamay be the only sign of the disease.

10.88 and10.89Porphyria cutaneatarda: fragile, thinskin, rupturedblisters andtransverseleuconychia. Noteabsent lunulae

10.90Blue nails

10.91Muehrcke's nails:well-demarcatedhorizontal pink andwhite bands

10.92Proximal periungualfibromata

10.93Lateral periungualfibroma eroding thenail plate


214

In superior vena caval obstruction and congestivecardiac failure, the veins on the dorsum of the handsbecome engorged and static, with the resulting cold, orperipheral, cyanosis of the fingertips and suffusion ofthe periungual tissues (10.94). The lunulae lose theirpaleness and may become suffused. In both these condi-tions, the lunulae may sometimes become red; however,this phenomenon is not specific and may also occur in pso-

riasis, alopecia areata and in connective tissue diseases(10.95).

A large variety of tumours can occur under the nail butthese are rare. A malignant melanoma occasionally arisesunder the nail plate (10.96) as it does elsewhere. Spread-ing pigmentation (Hutchinsons sign) is a pathognomonicfeature of malignant melanoma that can result in completedestruction of the nail plate.

10.94Periungual suffusionand cyanosis of thefingers

10.95Red lunulae withlongitudinal ridging

10.96Malignantmelanoma:variegated colourfrom faint pinkish topurplish brown

11 THE LEGS215

The inspection of the legs is usually carried out during theinitial scalp-to-sole visual scan of the patient, and forms anessential, although often in practice a cursory, part of thegeneral examination. It is not unusual for medical studentsto hear their tutor say, 'Finally, as you conclude the inspec-tion, have a quick look at the legs to see if there is anyabnormality'. This approach is unfortunate as it plants amisconception in the mind of the student, that the exami-nation of the legs is not very rewarding, and that it does

not contribute much to the synthesis of the final diagnosis.A look at the face and the hands usually yields positive

signs more often than a look at the legs. However, thosesigns likely to be found on the legs have more diagnosticpower, since over 80% of them are fundamental signs andtherefore have a specific link to one or more diseases. Uni-lateral lower limb swelling (11.1), inflammation andswelling of the first metatarsophalangeal joint (11.2),bowing of the legs (11.3), erythema nodosum (11.4),

11.1Deep venousthrombosis: diffuseswelling of the rightleg

11.2Acute gout: swollen,inflamed firstmetatarsophalangealjoint

11.3Pager's disease withmarked curvature ofthe legs

11.4Subcutaneousnodules witherythema of theoverlying skin


216

erythema ab igne (11.5), necrobiosis lipoidica dia-beticorum (11.6) and pyoderma gangrenosum (11.7)are but a few examples of the signs predominantlyfound on the lower limbs, which either provide thediagnosis, or present a specific clue for a line of furtherinvestigation.

In real life, clinicians make a detailed examination of thelegs only after they have formed a tentative diagnosis fromthe history and systemic examination. Some physicianslook at the legs and feel the peripheral pulses when theyare testing tendon reflexes. Experienced clinicians oftenhave a good idea of what they are looking for in the legsafter they have completed the rest of the examination.Alternatively, an initial thoughtful inspection mightprovide a crucial clue that can help the entire processof making a diagnosis. What follows in this sectionhas been presented keeping both these approaches inperspective.

Only an experienced physician who is able to identifythe system at fault, and who has a good knowledge of thepossible clinical signs in the legs related to each system(Table 11.1), can use the first approach mentioned above.For example, when assessing a diabetic patient, such aphysician will take extra care in palpating all the pulses inthe legs, checking the integrity of both tissue perfusion andthe peripheral nerves, assessing foot hygiene and pressurepoints, and looking for the presence of any cutaneouslesions such as a diabetic dermopathy or necrobiosislipoidica.

A beginner will use the approach outlined in Table 11.2,although it is also applied by astute clinicians. In practice,a combination of both these methods is unlikely to missanything. A detailed visual survey of the whole patientshould identify an abnormality on the legs, and a return tothis area after the systemic examination should assign it tothe correct system. For most signs in the legs, it is possible

11.5Ill-defined, reddish-brown, reticularpattern caused bychronic exposure tolocal heat

11.6Large, yellow-orangeplaques with raised,irregular borders

11.7Ulcers with raisedbullous, underminedborders and ahaemorrhagicdischarge

217

to relate them to the appropriate system at the initialscan. It is therefore profitable to present the variousabnormalities likely to be found on the legs under theirsystems.

Endocrine disordersOf all the endocrine diseases, diabetes mellitus is the onewith the most abnormalities that can occur on the lowerlimbs. It affects adversely all the individual components ofthe legs (e.g. skin, muscles, nerves, blood vessels andbones), and the maxim, 'look at the diabetic's feet firstthen at their face', highlights aptly the chief concern ofsenior physicians who have seen the pedal ravages of thiscondition. In a large survey of a diabetic population, the

amputation rate was halved after the introduction of asimple outpatient programme of foot inspection at everyvisit.

The breakdown of the diabetic foot is caused by acombination of dryness, neuropathy, infection, vascularmaldistribution and inadequate foot care. The neuropathiculcer (also called a trophic, perforating or pressure ulcer)characteristically occurs on the plantar surface (11.8)and at the base of the big toe (11.9). Neuropathy is anessential predisposing factor and is often, but not always,characterized by marked loss of vibration, pain andtemperature sensations and absent ankle jerks. There isweakness and atrophy of the intrinsic muscles withsimultaneous contraction of the long flexors and extensorsproducing 'claw toes' (dorsiflexion at the metatarsopha-langeal joints and plantarflexion at the interphalangealjoints) (11.9).

Table 11.1 Clinical signs in the legs

System Signs

Endocrine Necrobiosis lipoidica diabeticorum,

granuloma annulare, pretibial myxoedema,

etc.

Locomotor Arthritides - gout, osteoarthrosis, etc.

Neurological Wasting, deformity

Cardiovascular Oedema, pallor, cyanosis,

phlebothrombosis

Skin lesions Macules, papules, nodules, tumours,

vesicles, blisters, bullae, urticaria, purpura,

ulcers

Table 11.2 Visual scan of the legs

Signs Possibilities

Joint swelling/ Arthritides - osteoarthrosis, septic,

deformity Charcot's, gout, rheumatoid, etc.

Deformity of Paget's disease, sabre shin (syphilis),

leg/thigh or foot Charcot-Marie-Tooth disease

Swelling of leg Congestive cardiac failure,

phlebothrombosis, ruptured Baker's cyst,

etc.

Wasting Old polio, muscular dystrophy, myopathy

Skin lesion Dermatoses, systemic disorders

11.8Deep ulcer crater,reaching the muscle,with nonhealing,callous, underminededge

11.9Ulcer with well-defined, underminededge penetrating tosubcutaneous tissues


218

The ulcer is characteristically punched out, circular andsurrounded by callous (11.8-11.10). The foot is usuallywarm with palpable pulses and the ulcer is often painless.At the outset there may be only a mild degree of impairedperception of vibration and pain sensations. Recurrentulcers result in loss of the toes (11.11). The neuropathycauses disarticulation producing a Charcot joint and neu-ropathic ulcers can also develop at proximal pressureareas (11.12). Other conditions causing neuropathic ulcersinclude tabes dorsalis, leprosy, syringomyelia and heredi-tary sensory neuropathy.

Nowadays diabetes mellitus is the commonest cause ofCharcot's arthropathy. Other principal causes are tabesdorsalis (affecting knee joints), syringomyelia andleprosy (affecting upper limb joints). In diabetes mellitus,the midtarsal joints are involved with gross destructivechanges, new bone formation, joint instability and deform-ity (11.13). These changes can sometimes develop at analarming speed, as in this patient (11.14) whose problemstarted with a nail injury to the instep, which led to a septicarthritis even before the diagnosis of diabetes mellitus wasmade.

11.10Ulcer with slough onthe base and anerythematous edgesurrounded bycallous

11.11Loss of two lateraltoes and an ulcer onthe sole

11.12Charcot's ankle witha punched-out ulcer

11.13 and11.14Charcot'sarthropathy withgrossly deformedfeet

THE LEGS

Peripheral vascular disease, gangrene and amputationoccur more frequently in diabetic patients, and equally inboth sexes, than in nondiabetic subjects. In addition toaccelerated atherosclerosis, diabetic patients also havemultiple small vessel occlusions. This patchy involvementof the small arteries is illustrated by the presence of gan-grene in one part, and palpable pulses with a good circula-tion in another part of the same foot. The heel of thediabetic patient is particularly vulnerable to pressureischaemia, which leads to gangrenous changes (11.15,11.16). This is because the heel and the lateral borderof the foot are subjected to high pressure, which may rendera marginally adequate blood supply inadequate. Often sec-ondary infection supervenes with disastrous consequences.

The nondiabetic is more likely to have atheroscleroticchanges in the big vessels (e.g. aorta, iliac and femoralvessels), whereas the diabetic patient tends to have these

changes in the more distal vessels such as the tibial andperoneal arteries (11.17). The ischaemic process is oftenslowly progressive and less advanced in these smallervessels. This explains the presence of a palpable dorsalispedis and/or anterior tibial pulse in the foot that has severeperipheral vascular disease with patchy gangrene of thetoes (11.18). Autonomic neuropathy sometimes con-tributes to this vascular maldistribution. Venous stasis,which also results in ulcers (11.19), often compounds theproblem caused by the arterial insufficiency.

Diabetic dermopathy (shin spots) is the commonestcutaneous manifestation of diabetes mellitus. The spotsstart as multiple, discrete dull red papules (11.20).They occur mostly on the extensor surfaces of the legsbut may also be found on the thighs and forearms. Malediabetic patients predominate over females in a ratio of2:1.

11.15 and11.16Gangrenous ulcerswith black slough onoedematous feet

11.17Peripheral vascularinsufficiency withoedema andcyanosis of theworse affected foot

11.18Periungual andsubungualgangrenous changes

11.19Venous stasis ulcerwith pigmentation ofatrophic skin

11.20Multiple, dark redand brownmaculopapular spots


Necrobiosis lipoidica diabeticorum (11.21, 11.22) is anuncommon cutaneous lesion in diabetic patients (ap-proximately 0.2%) but it is strongly associated with thedisease. It may even occur in those who only have impairedcarbohydrate tolerance or a positive family history of dia-betes mellitus. Most of the patients are less than 40 yearsof age and females predominate over males (ratio 3:1).Diabetes usually has been present for over 1 year, althoughin some patients (approximately 15%) the lesion may bepresent before the diagnosis of diabetes is made. Note the

progressive changes of Charcot's arthropathy (clawing oftoes, falling arches and drooping malleoli) in Figures 11.21and 11.22.

Necrobiosis lipoidica is often bilateral but not neces-sarily symmetrical (11.23). The legs are affected in approx-imately 85% of patients and in the remaining 15% thelesions may develop on the arms, head or abdomen. Theinitial lesion is a reddish fleshy plaque, somewhat round oroval in shape (11.24), with sharply defined and elevatedborders. It extends outwards in an annular fashion, the

11.21 and11.22Multiple, serpiginousplaques with centralatrophy. Note flatfeet with clawing ofthe toes

11.23Necrobiosis lipoidicadiabeticorum: large,dusky red plaqueswith well-demarcated,irregular marginsand central atrophy

11.24A dark red plaquewith irregularmargin. Notemultiple scatteredmacules and papules(diabeticdermopathy)

THE LEGS

borders becoming irregular but often remaining elevatedand erythematous, while the centre becomes depressedfrom atrophy of the epidermis, which looks transparentand takes a yellowish hue (11.25,11.26). Occasionally, theatrophic epidermis breaks down and ulcerates. Goodcontrol of the diabetes does not appear to influence thelesions which remain persistent in most patients. In afew patients, the lesions clear spontaneously over manyyears.

Recurrent injection of high doses of insulin at the same

site can cause lipoatrophy, with loss of the subcutaneousfat (11.27). The condition was commoner in females beforethe introduction of monocomponent and human insulins.

Granuloma annulare has been observed in diabeticpatients but this association is rather weak as it developsfrequently in patients with a normal glucose tolerance. Thelesions occur characteristically on the dorsum of the handsand fingers, the extensor surfaces of the elbows and knees,on the dorsal surface of the foot (11.28) and around theankles (11.29). It starts as a flesh-coloured dermal papule

11.25 and11.26Necrobiosis lipoidicadiabeticorum: large,waxy plaques withraised, irregularmargins. Note adepressed scar inthe middle in 11.25

11.27Lipoatrophy causingdepression of theskin at injection sites

11.28Granulomaannulare: large,annular, reddish-brown plaque withwell-defined margin

11.29A dark red plaquewith central clearing


coalescing in a circular ring of 1-5 cm diameter (11.30).Thelesions may occur at any age, even in children. A dissemi-nated form of granuloma annulare is thought to be relatedto overt or latent diabetes mellitus (see 9.159; p. 188).Approximately one-half of the lesions clear up sponta-neously over a period of 2-3 years.

Diabetic bullae (bullosis diabeticorum), which resemblebut are not caused by burns (11.31), occur in long-standing diabetics with neuropathy. The bullae are of rapidonset and are sometimes first discovered when getting outof bed in the morning. They may be unilateral or bilateraland usually appear on the toes, plantar and dorsal surfacesof the foot, and on the fingers (see also 9.158-9.162;pp. 187-8). The blisters are tense, containing serous butsometimes haemorrhagic fluid, and their base and theadjoining skin are not inflamed.

Diabetic amyotrophy (proximal lower extremity motorneuropathy) usually involves the muscles supplied by the

femoral nerve, principally the quadriceps group. It resultsin a progressive, painful, bilateral and usually asymmetri-cal, weakness and wasting of the thigh muscles (11.32,11.33), with loss of the knee jerk but with very little sensoryimpairment. The syndrome mostly affects poorly con-trolled diabetic patients in their middle age, is heralded byrecent weight loss, and is slowly reversible.

The classic cutaneous lesion of a glucagonoma(necrolytic migratory erythema] begins as erythema of theskin, becomes indurated and develops central blistering,which bursts and leaves a crust (11.34). The rash is mostprominent on the perineum, along intertriginous folds(11.35, 11.36), around the mouth and on the tongue (see2.74; p. 81). The characteristic waxing and waning skin rashis considered to be the hallmark of the syndrome but onlyoccurs in approximately two-thirds of patients. The otherfeatures of the syndrome are diabetes, hypoaminoaci-daemia, weight loss and anaemia.

11.30A reddish dermalplaque with well-defined margin

11.31Diabetic bullae.Note necrobiosislipoidicadiabeticorum

11.32 and11.33Diabetic amyotrophywith asymmetricalflattening of thighmuscles

11.34Migratory necrolyticerythema:erythematousplaques withirregular marginsand central crusting

THE LEGS

223

Approximately 5% of patients with Graves' diseasedevelop localized myxoedema (often after being renderedeuthyroid or hypothyroid with treatment), usually affect-ing the anterior aspect of the leg (pretibial myxoedema).Sometimes the hands or face may be involved, particularlyif the affected area is subjected to constant trauma. Theskin is thickened, raised, nontender and violaceous withcoarse hair and nonpitting oedema (11.37).

In Cushing's syndrome purple striae can be found on theabdomen, buttocks (11.38) and on the thighs (11.39). Thephenomenon is caused by thinning of the skin, which looksparched and transparent. There is usually underlying mus-cular weakness and wasting particularly affecting the lowerlimb-girdle muscles.

The feet are enlarged, broad and bulky (11.40,11.41) inacromegaly. The increase in the size of the feet affects both

11.35 and11.36Glucagonomasyndrome:erythemafous,inflammatoryplaques of thescrotum, penile shaftand intertriginous

11.37Pretibialmyxoedema: araised, reddishplaque with irregularmargins

11.38Cushing's syndrome:purplish striae

11.39Scattered, purplish,streaky striae

11.40 and11.41Acromegaly: large,square, bulky feet

224


the anteroposterior and transverse dimensions. It is causedby thickening of the skin and soft tissues, and is particu-larly noticeable over the heels and the lateral borders.Sometimes the pads of the feet are so thickened that thetoes cannot be placed on the floor (11.42).

In pseudohypoparathyroidism, the short third, fourthand fifth metacarpals (see 9.145-9.147; pp. 184-5) andmetatarsals create dimples on the dorsum of the corre-

sponding hand and foot, with shortening of one or morefingers and toes (11.43,11.44).

Polydactyly (11.45) is characteristically seen in theLawrence-Moon-Biedl syndrome (see also 9.148; p. 185).

The absence of hair and a reduced muscular bulk in thelower extremities of a'male patient (11.46,11.47) add sub-stance to other features of hypopituitarism (see 1.96 and1.99-1.102; p. 20).

11.42Acromegalic footwith thickened soleand heel

11.43Pseudohypopara-thyroidism: shortthird, fourth and fifthtoes

11.44A short fourth toe dueto a correspondingshort metatarsal bone

11.45Lawrence-Moon-Biedlsyndrome: polydactyly

11.46 and11.47Hypopituitarism:absent hair

THE LEGS

225

Locomotor problemsSpot diagnosis of a condition affecting the locomotorsystem of the lower limbs involves a visual scrutiny of thebones and joints and their dynamic behaviour on walking.By the time most clinicians look at the legs, they have

already gained some diagnostic impressions from lookingat the rest of the body. For example, this may be the timeto add some final confirmatory touches to the diagnosis ofMarfan's syndrome, by looking at the tall figure of thestanding patient (11.48), by measuring the span versus theheight (11.49), and by looking at the feet for the presenceof arachnodactyly (11.50).

11.48 and11.49Marfan's syndrome:tall figure with longextremities

11.50Arachnodactyly:long, webbed toes


226

Paget's disease of bone is a very common and visuallyarresting condition of the elderly. Part, or all of a bone orseveral bones may be involved. The affected tibia is oftenbent laterally (11.51) with bone destruction followed byexcessive bone deposition, a high bone turnover, and anincreased vascularity, which is often demonstrable bywarmness of the overlying skin. The condition is oftensymptomless but may produce intractable pain. Anosteogenic sarcoma is a rare complication. Paget's diseaseof the leg should be distinguished from the sabre tibia(11.52) of late congenital syphilis, which is caused by

osteoperiostitis with laying down of new bone over thetibia. The middle third of the tibia becomes wide withpalpable irregularities along the anterior shin.

Osteoarthrosis of the knee joint often produces swellingand distortion of the surface markings of the joint (11.53,11.54). The knee joint is the largest superficial joint in thebody, and its swelling can be appreciated readily by inspec-tion. For this purpose, the joint can be conveniently dividedinto two parts: the main femorotibial articulation and thepatellofemoral compartment. The latter includes thesuprapatellar extension of the synovial cavity and some-

11.51Paget's tibia

11.52Sabre tibia: a widerleft leg with irregularanterior shin margin

11.53Osteoarthrosis:irregular, bulgingoutline

11.54Osteoarthrosis witheffusion of the kneejoints

11.55 and11.56AdvancedOsteoarthrosis witheffusion of thesuprapatellarpouches

THE LEGS 11227

times it is this that bears the brunt of osteoarthrosis (11.55,11.56). In such cases, a horseshoe-shaped swelling extendsfrom the large suprapatellar pouch to the inferior borderof the patella, filling in the depressions on either side ofthe patellar ligament.

The joint is usually painful and with the associatedlimited mobility there is rapid wasting of the quadriceps.With advanced damage the joint becomes unstable andmay develop a varus (11.57) or a valgus deformity (11.58).

When there is also an effusion with osteoarthrosis thejoint tends to be warm although less so than in septicarthritis (11.59), gout, pseudogout (11.60), haemarthrosis(usually in a haemophiliac patient) (11.61) and in rheuma-toid arthritis (11.62). Since all these conditions raise dif-fering management implications, the cause of the effusion,which has been detected clinically by palpation (fluctua-tion], should be established by aspiration, microscopy andculture.

11.57Osteoarthrosis: genu

11.58Osteoarthrosis: genuvalgum

11.59Acute monoarthritiswith effusion:swollen joint withloss of surfacemarkings

11.60Pseudogout

11.61Acute effusion of theright knee joint(haemarthrosis)

11.62Effusion of the kneejoint in a patientwith rheumatoidarthritis


228

Osteoarthrosis results when there is an imbalance betweenthe mechanical demands and the joint stability, as happensoften from excessive mechanical pressure associatedwith obesity. Nevertheless, marked joint laxity in theEhlers-Danlos syndrome with a normal degree of mechani-cal pressure can achieve the same result (11.63). Note the'cigarette-paper' scars on the skin overlying the joint.

Septic arthritis usually has an acute onset with malaise,toxaemia and fever. The affected ankle (11.64) or knee

joint is painful, swollen, warm, tender and semiflexed torelieve the pressure on the capsule (11.65). Acute effusionsshould always be regarded with suspicion and the safe ruleis always to aspirate such joints for bacteriological investi-gation. The objective is early treatment and prevention ofpus formation.

The knee is among the most commonly affected weight-bearing joints to be involved in rheumatoid arthritis withsynovial hypertrophy and often with effusion (11.66). The

11.63Ehlers-Danlossyndrome:osteoarthrosis of theknee joint with thin,whitish, paperyscars ('papyraceous'scars) in the skin

11.64Acute swelling of theankle joint witherythematousoverlying skin

11.65Septic arthritis of theleft knee joint

11.66Rheumatoid arthritis:thickened synoviumcausing bulging skinfolds

THE LEGS

. • - ™ ?:« ?:i ^™

229

diagnosis may be made by association with the relevantabnormalities elsewhere and by aspiration (11.67, 11.68).The enlargement of the semimembranous bursa into thepopliteal space (Baker's cyst), and its rupture producingswelling of the leg, may mimic acute phlebothrombosis(11.69,11.70). In either case, the patient presents with an

acute, painful swelling of the calf. An effusion of the kneejoint confirmed by aspiration favours rheumatoid arthritisas the aetiology of the swelling. An ultrasonogram andarthrography will help confirm the diagnosis.

As in the fingers, digital arteritis may result in aninfarction of a toe (11.71,11.72). Larger areas of ischaemia

11.67 and11.68Rheumatoid arthritisof the hands, kneesand toes

11.69 and11.70Ruptured Baker'scyst: swellingconfined to theupper compartmentof the leg

11.71 and11.72Rheumatoid arthritiswith digital arteritis:infarction of the thirdtoe


230

may occur in the lower extremities, with the developmentof ulcers over the malleoli (11.73). These ulcers areoften covered with slough (11.74) and are difficult toheal. Rheumatoid vasculitis is frequently associated with asystemic disturbance (e.g., malaise, anaemia, fever,toxaemia).

Gout is the commonest form of crystal arthropathy. Anattack of acute gouty arthritis classically involves the firstmetatarsophalangeal joint with pain, oedema and intenseinflammation (11.75, 11.76). Exquisite tenderness is aprominent clinical feature and the patient, who often

wakes up with the attack, cannot bear the weight of thebedclothes on the affected foot. Movements are verypainful and the patient is unable to dorsiflex the big toe(11.77). Most such patients have had asymptomatic hyper-uricaemia for many years, before the urate crystals accu-mulated in the joint and provoked an acute attack. Duringthe acute episode, the serum uric acid level may be normal.The diagnosis depends on the characteristic clinical pres-entation and also on the demonstration of negatively bire-fringent needle-shaped urate crystals in the aspirated fluid,seen under polarized light microscopy.

11.73 and11.74Infarction ulcers withwell-defined, raisedmargins and sloughin the base

11.75Swollen, inflamedfirstmetatarsophalangealjoint

11.76 and11.77Acute gouty arthritis:erythematous skinover the firstmetatarsophalangealjoint and loss ofdorsiflexion

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231

Recurrent attacks and tophaceous deposits of urateproduce swelling and distortion of the affected toes (11.78,11.79).These deposits sometimes invade the bone and ulcer-ate through the skin, giving rise to a punched-out ulcer onthe head of the first metatarsal (11.80; see also 9.19-9.25;pp. 160-1).

Pyrophosphate arthropathy (chondrocalcinosis, pseudo-gout) is a progressive degenerative joint disease thatresults from the deposition of calcium pyrophosphatecrystals in the joints. Like gout, acute attacks may occurwith pain, effusion and a systemic reaction but, unlike

gout, both sexes are involved and larger joints such asthe shoulders and knees are commonly affected(11.81).

Sometimes the diagnosis is made incidentally in anelderly patient whose radiograph of the knee joint showsa rim of calcification in the articular cartilage. More oftengout is suspected in a swollen and painful knee joint(11.82). The correct diagnosis is made when pleomorphicpyrophosphate crystals are discovered in the aspiratedfluid, which show weakly positive birefringence onpolarized light microscopy. In a few patients, the condition

11.78 and11.79Recurrent goutyarthritis: tophaceousdeposits withoverlying shiny skin

11.80An ulcerated tophus

11.81Recurrent attacks ofpseudogout in theknees with pre-existingosteoarthrosis

11.82Acute monoarthritis:pseudogout


232

is associated with hyperparathyroidism, haemochromato-sis, hypophosphatasia, gout, diabetes mellitus, acromegalyor Wilson's disease.

Charcot's (neuropathic) arthropathy characteristicallyinvolves the hip or knee joints (11.83,11.84) in tabes dor-salis, which is a condition of syphilitic aetiology, and is sonamed because of the loss of the posterior column. As aresult of the massive destructive changes, the joint isgrossly misshapen (11.85) with joint instability and abnor-mal movements.

Neuromuscular disordersThere are only a few visually static signs in the lowerextremities (e.g. wasting, burns, ulcers, deformity) thatsuggest the presence of a neurological disorder. Even whenone takes account of the visually dynamic signs such asfasciculation, dyskinetic movements and abnormalities of

the gait, inspection plays a relatively small part in theneurological evaluation of the lower limbs. Nonetheless,whenever a neurologically relevant sign is present, it ismostly unmistakable, visually arresting and highly specific.For example, pes cavus and clawing of the toes may bepresent without any neurological disorder, but there is alsoa high degree of association with one of the hereditaryataxias or Charcot-Marie-Tooth disease (hereditarymotor and sensory neuropathy), as seen in these twopatients (11.86,11.87). There is distal wasting and the feetare slightly inverted, suggesting a weakness of the peronealmuscles. When considered with the other findings, the diag-nosis can be made by inspection alone.

Foot drop (loss of eversion and dorsiflexion) withwasting of the anterior tibial and peroneal muscles, usuallyoccurs when the common peroneal nerve is injured at thehead of the fibula (from a fracture or compression). It issuperficial here as it winds around the neck of the bone todivide into the superficial and deep peroneal nerves. Thin

11.83Cheroot'sarthropathy in tabesdorsalis: adisarticulated leftknee joint

11.84Charcot's knee joint

11.85A misshapen,disarticulated kneejoint

11.86 and11.87Charcot-Marie-Toothdisease: bilateralclub feet withclawing of the toes.The toes are soclawed that they canonly touch theground if the heelsare elevated

THE LEGS

233

and undernourished patients and some healthy subjects aresusceptible to pressure palsy of the nerve, sometimesinduced by sitting with the legs crossed for prolongedperiods. Such patients are unable to evert and dorsiflexthe toes at the metatarsophalangeal joints (11.88). Sensoryloss depends on the level and the extent of the lesion.The patient can stand on the toes but not on the heel ofthe affected leg. The ankle jerk is preserved. Preservationof inversion of the ankle (tibialis posterior) distinguishesa lesion of the common peroneal nerve from that of L4/5root.

Compression or injury to the nerve before the division,or to the superficial peroneal nerve, will result in loss ofsensation over the front and lateral aspects of the leg andover the dorsum of the foot (11.89).

Spastic foot drop (11.90) can occur if the lesion is in thespinal cord, as in this patient with syringomyelia. Such a

patient may have kyphoscoliosis, wasting of the smallmuscles of the hands, absent reflexes in the upper limbs,brisk reflexes in the legs, dissociated sensory loss (loss oftemperature and pain with the retention of touch, positionand vibration sensations) and extensor plantars.

Wasting and a lack of prominence of the muscles in onelimb compared with its fellow in a standing patient (11.91)suggests old poliomyelitis. The affected leg tends to beshorter because of growth impairment from early child-hood when the disease was contracted.

Gross muscle wasting affecting both limbs with foot drop(11.92) can represent a part of generalized muscle wastingthat is characteristic of progressive muscular atrophy(motor neurone disease). However, cord compression,syphilitic amyotrophy and old poliomyelitis are among theconditions that should be excluded when considering sucha diagnosis.

11.88 and11.89Left commonperoneal nervepalsy: loss ofdorsiflexion andeversion. Note themarked area ofsensory loss

11.90Foot drop

11.91Old poliomyelitis ofthe left leg

11.92Motor neuronedisease: generalizedmuscle wasting andbilateral foot drop


234

Vascular and othersystemic disordersAfter having looked for some familiar examples ofendocrine, locomotor and neurological disorders, thereremains a group of signs that is always associated with thelegs, and has a great relevance to some specific systemicdisorders. Since the lower limbs contain a large network ofvessels, there are quite a few vascular disorders thatdevelop in the legs with their various manifestations. As apart of the inspection routine, the clinician should specifi-cally check for signs of:

• Oedema (11.93);• Phlebothrombosis (11.94);• Peripheral vascular insufficiency (11.95);• Vasculitis (11.96).

Oedema of the legs can point to a variety of underlyingdisorders such as congestive cardiac failure, hepatic failure,venous obstruction and severe hypoalbuminaemia, but itis not specific to any one of them. Apart from ascertainingwhether the swelling is solid, as in myxoedema or lym-phoedema (11.97), or is caused by fluid and hence pits onpressure (11.98), one can get very little insight into theunderlying disorder without a proper clinical assessmentof all the systems.

11.93Oedema

11.94Deep venousthrombosis: a bulkyright leg withoedema andobscured articularfeatures of the kneejoint

11.95Arterial insufficiencywith cyanosis anderythema

11.96Necrotizing vasculitiswith 'palpablepurpura' and crustedsites of cutaneousinfarction

THE LEGS

Deep venous thrombosis produces oedema and indura-tion of the surrounding tissues increasing the girth of theaffected leg (11.99), and the thigh if extending to thefemoral vein (11.94), with shiny, inflamed and tender over-lying skin. As already stated, the legs should be inspectedroutinely for signs of phlebothrombosis, since this majorsource of potentially lethal emboli is asymptomatic inapproximately one-half of the cases.

Deep vein thrombosis should be distinguished fromsuperficial thrombophlebitis, which is painful and visuallystartling (11.100) but does not cause embolic complica-tions. It occurs frequently after pregnancy and in patientswith varicose veins. A migratory form of superficial throm-bophlebitis (11.101) occurs in thromboangiitis obliteransand autoimmune haemolytic anaemia.

11.97Lymphoedema: solid,nonpitting,deforming swelling

11.98Pitting oedema offluid retention

11.99Phlebothrombosis

11.100Thrombophlebitis:red, inflamed streaksalong the course of

11.101Thrombophlebitis ofsuperficial veins


236

11.102Varicose veins:tortuous, engorgedsuperficial veins

11.103Diffuse varicositiesalong the course ofveins

11.104Chronic arterialinsufficiency:wasting, cyanosisand microinfarcts

11.105Arterial insufficiencywith cyanosis of theforefoot and toes

11.106Ischaemia witherythema overpressure points atthe base and tip ofthe big toe

11.107Ischaemia withsuperimposedcellulitis

THE LEGS

Varicose veins are abnormally distended, tortuous andeasily visible in an ambulant subject (11.102). The condi-tion is slowly progressive with advancing age leading togross distension of veins on the legs and thighs (11.103).Pregnancy, ascites and congenitally absent or defectivevalves may be the cause in some cases, but in most patientsno clearly identifiable reason can be found.

Peripheral arterial insufficiency produces profoundchanges in the appearance of the legs. Often there is pallorof the legs, cyanosis of the cold feet from stagnationand desaturation of the blood, muscular wasting in long-standing cases and small areas of infarction (11.104). Thearterial pulses are absent. The rate of restoration of a pinkcolour, after skin blanching on digital pressure, on the padsof toes is delayed. More commonly, one or more cutaneousulcers may appear on the leg as the first telling sign of thecirculatory disorder.

In severe cases of atherosclerosis obliterans one or moretoes or a portion of the foot may become dusky (11.105).The skin is usually cold, dry and puckered over the padsof the toes owing to atrophy of the underlying soft tissues.Ulceration and gangrene may form on the terminal partsof the toes, usually around the nails (11.106) and, in time,

these can become loose and slough off from their bases.The tips of the nails are vulnerable from the normal pres-sure of the shoes in ordinary walking. The process is worsein the other foot of this patient because of a combinationof ischaemia and cellulitis (11.107).

Even trivial mechanical or thermal trauma, unnoticed bythe patient, may set up the ulceration and the gangrenousprocess at the tips of toes (11.108). Ischaemic ulcers tendto have a somewhat pale base and dry margins (11.109).These lesions seldom cause systemic effects with toxaemiaunless secondary infection supervenes and spreading cel-lulitis develops. Unlike neuropathic ulcers, which are oftenpainless, ischaemic ulcers usually cause severe pain, espe-cially on elevation of the leg. Gangrene also develops onother pressure areas such as the heels, malleoli and the firstand fifth metatarsal heads.

Infarctive (MartorelPs) ulceration characteristicallyaffects the lower legs of hypertensive patients (posterolat-erally or medially) (11.110), especially in those who alsohave diabetes. These ulcers are caused by avascular necro-sis of the skin, they develop rapidly with severe pain, donot appear on pressure areas and are single and large witha red base (11.111).

11.108 and11.109Inflamed,gangrenous toe tipswith an ulcer andhaemorrhagic crusts

11.110 and11.111Martorell's ulcer:punched-out, sharplydemarcated ulcerwith a haemorrhagicbase and anerythematous haloaround it


Large single ulcers on the legs, as described above, shouldbe distinguished from the ulcers of pyoderma gangreno-sum, which have oedematous undermined edges (11.112).These can occur anywhere on the body but are often seenon the thighs and legs where they may be confused withischaemic ulcers (11.111). Pyoderma gangrenosum is asso-ciated characteristically with chronic ulcerative colitis andoccurs in approximately 10% of patients with the disease.Approximately one-half of the patients with these ulcersare found to have ulcerative colitis, Crohn's disease,rheumatoid arthritis, dysproteinaemias, leukaemias andlymphomas. In the remaining half no cause is found.

The initial lesion is an erythematous plaque in whichpustules develop (11.113). These small ulcers coalesce toform a large ulcer, with a bluish, oedematous, undermined

edge and necrotic areas on the red base (11.114).The ulcerusually relates to the severity of the bowel disease andsometimes is a presenting feature.

Thromboangiitis obliterans (Buerger's disease) occurspredominantly in young (25-40 years of age), malesmokers of all races and occupations. Pain in its variousforms (intermittent claudication, rest pain in the digits and,in the later stages, pain of ischaemic neuropathy, ulcerationand osteoporosis) is the outstanding symptom. Ulcerationand gangrene develop early, usually in one extremity at atime (11.115), most frequently in the distal half of the digitsaround the margins of the nails (11.116). This suggests thatthe pressure on the nails from shoes during walking maybe enough to cause necrosis of the skin and tissues, whichhave impaired blood supply.

11.112Pyodermagangrenosum withraised underminedborders andhaemorrhagicexudate

11.113A haemorrhagicpustule

11.114Pyodermagangrenosum:erythematous,irregular margin andnecrotic ulcer

11.115Thromboangiitisobliterans: gangreneand loss of terminaldigits

11.116Thromboangiitisobliterans withrecurrent gangreneof the toes

11.117Thromboangiitisobliterans withsegmentalthrombophlebitis

THE LEGS

Segmental thrombophlebitis of small and medium-sizedveins (11.117) occurs at some stage in well over one-thirdof cases. The lesions usually develop acutely as red, raisedand tender cords, 0.5-4 cm in length. When seen in associ-ation with occlusive arterial disease, the diagnosis ofthromboangiitis obliterans must be considered.

Digital arteritis leading to gangrene of the toes is a well-known complication of rheumatoid arthritis. As in throm-boangiitis obliterans, the pressure areas around the nailsare vulnerable (11.118), but the changes of arterial oc-clusion usually affect the sides of the digits and theninvolve the entire toe (11.119). The proximal arteries in thefeet and legs are palpable unless there is a coexistent ath-erosclerosis obliterans. Moreover, the articular changes ofrheumatoid arthritis make the diagnosis comparativelyeasy.

Vasculitis, or inflammatory and proliferative changes ofsmall arteries and arterioles, occurs in many heteroge-neous systemic disorders (see p. 56). The vasculocutaneousmanifestations of these diseases are not always specific toany particular entity but point to a group of well-knownconditions and are therefore regarded as fundamentalsigns.

Erythema nodosum is by far the commonest vasculocu-taneous disorder characterized by the acute appearance ofinflammatory, nonsuppurative, tender cutaneous andsubcutaneous nodules on the extremities (11.120) and, lessfrequently, on the trunk. It occurs most commonly on theshins of young females (female:male ratio of 5:1), and isoften associated with an arthralgia, malaise, fever andsometimes lymphadenopathy. The rash often appears 2-3weeks after an upper respiratory tract infection.

11.118 and11.119Rheumatoid arthritiswith digital arteritisand gangrene of thetoes

11.120Erythema nodosum:ill-defined cutaneousnodules witherythema of theoverlying skin


240

Dusky red, elevated, painful lesions, 2-6 cm in size withindistinct margins (11.121), appear particularly on theshins where they may merge with one another (11.122,11.123). Over a week or so they develop a bruised appear-ance (11.124) and are sometimes followed by fresh lesions.The diagnosis is usually easy although sometimes, in theearly stages, it may be difficult to distinguish it from

Table 11.3 Causes of erythema nodosum

Bacterial

Acute sarcoidosisViruses and chlamydiae

Streptococcal throat infection,primary tuberculosis, syphilis,leprosy, salmonella

Lymphogranuloma venereum, catscratch disease, hepatitis B,infectious mononucleosis,psittacosis, etc.

Inflammatory bowel diseaseYersinia infectionsMycosesDrugs

Malignant disorders

Idiopathic

Sulphonamides, penicillin, gold,salicylates, codeine, barbiturates,oral contraceptives, etc.

Leukaemias, Hodgkin's disease,lymphomas

cellulitis (11.125) and nodular panniculitis (see 9.187,9.188; p. 193). Streptococcal pharyngitis and sarcoidosis areamong the principal underlying disorders (Table 11.3).

A careful initial inspection of the legs of a young patientbrought in with a 2-day history of malaise, fever, chills,headaches, myalgia and arthralgia may prove life-saving,by revealing the cutaneous hallmark (11.126) of a poten-tially lethal infectious disease such as meningococcaemia.The cutaneous lesions are red macules accompanied bypetechiae, purpura and sometimes ecchymoses (11.127).There may be red pustules with necrotic grey centres(11.128), usually suggestive of fulminant meningococ-caemia with a grave prognosis. Sadly, this malignant varietyhas occasionally been mistaken for chicken pox!

When contemplating the diagnosis of infective endo-carditis, the legs shold get their due share of the clinician'sattention for the search for Osier's nodes on the toes andsoles (11.129, 11.130), and for Janeway lesions (11.131).Figure 11.129 shows an Osier node on the big toe which waspalpable and tender. Janeway lesions, in contrast, are non-tender, small macules, approximately 1-4 mm in diameter,which develop on the palms, soles, ankles, ears, flanks andforearms. They are common in acute bacterial endocarditisand seldom occur in bacteraemia without endocarditis.

Wegener's granulomatosis is characterized by focalnecrotizing lesions in the upper respiratory tract (lethalmidline granuloma) and lungs, and vasculitis in the lungs,kidneys and skin. Destructive granulomas develop in thenose (see also 1.284, 1.285; p. 56) and sinuses. Althoughsome patients do not complain of any symptoms, direct

11.121, 11.122and 11.123Erythema nodosum:large, painful,subcutaneousnodules withoverlying erythema

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241

11.124Erythema nodosumwith bluishdiscolouration ofage of the lesion

11.125Cellulitis: diffuseswelling anderythema

11.126, 11.127and 11.128Acutemeningococcaemia:palpable purpuraand purpurafulminans

11.129Osier's nodes: small,purplish,subcutaneousnodules on the soleand pulp of thegreat toe

11.130Osier's nodes on the

11.131Janeway lesions:haemorrhagic,infarcted maculesand papules


questioning often reveals a recent history of catarrh, coughand pain in the region of sinuses. The cutaneous changesare of macules, papules, ulcerating purpuric nodules andpustules (11.132,11.133). The usual course is a local spreadof the granulomas in the nasopharynx, a generalizedadvance of the vasculitis in the kidneys and skin (11.134),and death within 2 years from renal failure. In a few cases,a limited form of this disorder has been reported in whichthe kidneys are not involved and the prognosis is good.

The Henoch-Schonlein syndrome (anaphylactoidpurpura) is a form of necrotizing vasculitis of small vessels,affecting children and young adults, with involvement ofthe bowel, joints, skin and kidneys. The clinical manifesta-tions include palpable purpura on the lower extremities(11.135, 11.136) and buttocks (11.137) from a leucocyte-clastic vasculitis of the dermal vessels, arthralgia of largejoints (usually knees and ankles), and gastrointestinalinvolvement with colic, haemorrhage and intussusception.

11.132Wegener'sgranulomatosis withpalpable purpuraand crusted,infarcted lesions

11.133Necrotizing vasculitiswith haemorrhagicbullae

11.134Vasculitis with diffuse'palpable purpura'

11.135 and11.136Henoch-Schonleinsyndrome with'palpable purpura'on the legs

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The most serious association is nephritis, which resem-bles IgA nephropathy and occurs in approximately 30%of patients. The disorder follows some 2 weeks after anupper respiratory tract infection. After a short prodromalphase, the rash appears initially as macules, whichrapidly become purpuric (11.138), sometimes with centralnecrosis (11.139). A confident clinical diagnosis can bemade if a young patient (aged 20 years or less) developspalpable purpura, mostly on the legs and buttocks, andhe or she also has some symptoms of bowel angina(diffuse abdominal pain, worse after meals, often withbloody diarrhoea).

Livido reticularis, or a bluish-red mottling of the skin

(11.140), related to small vessel occlusion, may occur as aresult of vasculitis in association with polyarteritis nodosaand systemic lupus erythematosus. In some cases theremay be no associated disease, while in others it may be theresult of impaired perfusion, as in atherosclerosis obliter-ans and in cholesterol embolization, or due to hypervis-cosity, as in cryoglobulinaemia and hyperglobulinaemia.In systemic lupus erythematosus there may be nailfoldinfarcts (11.141) and a variety of other cutaneous lesions(see 9.80, 9.81,10.76-10.78; pp. 173, 210-11).

Indurated, smooth, red or plum-coloured nodules orplaques (11.142) occur in B-cell lymphoma. The lesions arefirm, nontender, fixed subcutaneous masses.

11.137 and11.138Palpable purpurawith crusted,haemorrhagicinfarcts

11.139Crusted, multiplecutaneous infarcts

11.140Polyarteritis nodosa:bluish-red mottlingof the skin andmultiple, reddishdermal nodules

11.141Systemic lupuserythematosus:nailfold infarcts

11.142B-cell lymphoma:confluent, violaceousnodules


244

Skin lesionsThe separation of this section from the preceding sectionsthat also refer to conditions with cutaneous manifestationsis not entirely arbitrary. Some commonly seen skin lesionssuch as purpura and petechiae have been referred to in thesection on vasculitis because these are only a pointer toan underlying disorder. The conditions described hereare mostly of dermatological interest in which the diag-nosis does not begin, as in the previous section, but mayend with the cutaneous lesion. Most of these disordershave been described in other chapters, and will bementioned here briefly in as much as they affect thelower limbs.

As suggested elsewhere (see pp. 58 and 166 and Tables1.5,9.1), the diagnosis of skin lesions depends on the char-

acteristics of a single as well as a group of lesions, theirdistribution, and on the associated features. An expert der-matologist will recognize ringworm infection at first sight(11.143) but a beginner will also reach the diagnosis bylooking closely at the red, scaly, macular lesions that havespread peripherally, forming a somewhat circular patch(hence the name ringworm). This patient also had fungalinvolvement of the soles (tinea pedis) with fine, silveryscaling, Assuring and erythema (11.144).

Sharply marginated, round or oval macules varying insize and colour occur in tinea versicolor (pityriasis versi-color) (11.145,11.146). The colour of the macules tends tocontrast with that of the surrounding skin, either brown orwhite, and the usual site of predilection is the trunk(11.147). Sometimes the legs are predominantly involvedand the macules may be white, brown or reddish-brown(11.148).

11.143Ringworm: sharplymarginated plaquewith scaling

11.144Tinea pedis: diffuseerythema withscaling and fissuring

11.145Tinea versicolor:confluent, darkishpink macules

11.146Tinea versicolor:sharply marginated,large, pinkish

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245

The diagnosis of psoriasis is easy when erythematouspatches covered with thick, silvery-white keratotic plaquesare localized to the extensor surface of the knees (11.149).However, difficulty may be experienced in the generalizedform when sharply marginated red plaques are distributedon both legs (11.150, 11.151). Often a careful look willreveal silvery-white scales over some of the plaques.Furthermore, an examination of the hairline, the

elbows and the nails should remove any remaininganxiety. In lichen planus and psoriasis typical lesionssometimes appear along the line of traumatized skin(Koebner phenomenon), damaged by scratching (11.152)or surgery.

Erythematous papules and small haemorrhagic vesiclesdistributed in groups (11.153) and associated with severeitching suggest a diagnosis of dermatitis herpetiformis. The

11.147Sharply marginated,brown and pinkish-brown macules

11.148Brownish-redmacules on pale skin

11.149Psoriasis: plaquescovered with silveryscales

11.150 and11.151Psoriasis: sharplymarginated,erythematouspapules andplaques, some withfine silvery scales

11.152Koebnerphenomenon: lineareruption of psoriaticlesion over thescratch marks

11.153Dermatitisherpetiformis: cropsof papules andruptured vesiclesaround the ankle


246

lesions tend to be in groups but may be of variable size andshape (11.154). The vesicles may have collapsed leavingbehind a denuded red base and, in some cases, thecollapsed roof may form a crust over the base (11.155).In approximately one-fifth of patients, erythematousblotches, looking like urticarial weals, may appear in alinear pattern with IgA deposition (11.156).

Apart from dermatitis herpetiformis, there are two othercommon conditions, pemphigus and pemphigoid, whichare characterized by the presence of blisters. In pemphi-gus, the bullae are initially skin-coloured and containserous fluid (11.157). They arise on normal skin, are roundor oval, and are distributed throughout the body in a

random pattern. Since these bullae are intraepidermalthey rupture easily and leave raw areas, which are tenderto touch and are spread over a large area of the skin(11.158).

Pemphigus occurs most commonly in patients betweenthe ages of 40 and 60 years and affects women more thanmen. The mucous membrane of the mouth is almost alwaysinvolved. In contrast, pemphigoid is a bullous disease ofthe aged in which large, tense and sometimes haemor-rhagic blisters arise on normal or erythematous skin(11.159,11.160). The diseae only occasionally involves themucous membrane and may remain localized to the legs,but often becomes widespread.

11.154 and11.155Dermatitisherpetiformis:collapsed blisterswith denuded, redbases

11.156Dermatitisherpetiformis:urticarial weals witherythematous skin

11.157Pemphigus: thinblisters containingserous fluid

11.158Pemphigus: rupturedblisters with red

THE LEGS

247

Discoid (nummular) eczema has a predilection for thehands and lower legs of older males where groups of smallpapules and vesicles appear on an erythematous base(11.161). The lesions may coalesce into rounded or coin-shaped (Latin 'nummularis' - 'like a coin') plaques, 4-6cmin diameter, and have an erythematous base with an indis-tinct border. Crusts and excoriations are present. The skinover the hands and lower legs tends to become dry, par-ticularly during the winter months. The patient oftenscratches, setting up an inflammatory base on which thevesicles and papules arise.

Nodular prurigo occurs in anxious patients who com-

pulsively dig the fingernails into the skin of any accessiblearea. These patients usually admit that the lesions are self-inflicted but say that they are unable to stop themselves,for reasons of chronic itching, irritation, or for no reasonat all. The lesions are nodules or slightly elevated papules,some covered with a blood crust and some, in which thecrusts have fallen off, with a depigmented top (11.162,11.163). Although many such patients have neurodermati-tis (neurotic itch}, sometimes with delusions of parasito-phobia, occasionally there may be a serious underlyingdisorder such as a lymphoma.

Drag eruptions can be caused by almost any drug and

11.159 and11.160Pemphigoid: diffuseerythematous skinwith ruptured andintact blisters

11.161Nummular eczema:a round nummularplaque witherythema, scalesand crusts and somesatellite lesions

11.162 and11.163Nodular prurigo:papules and nodulesscattered in the legs,some withdepigmented tops


248

can mimic virtually any morphological expression in der-matology. A pleomorphic rash containing pinpoint-sized tolarge macules and papules, some discrete/some confluentforming erythematous patches, and some lichenified, ap-pear symmetrically on the trunk and extremities as in thispatient (11.164) who was taking nitrazepam. A drug rashmust occupy the first place in the differential diagnosis ofthe appearance of a sudden, itchy, symmetrical eruption.

The penicillin rash is one of the commonest exanthe-mata, sometimes with urticaria (11.165), encountered inclinical practice. Sometimes urticarial weals (11.166)appear on the face, upper and lower extremities (11.167)and the trunk (11.168) in patients on penicillin, salicylatesor erythromycin.

Repeated exposure to heat from a fire causes a reddish-brown reticular discolouration on the legs referred to as

11.164Drug eruption:diffusemaculopapularlesions

11.165Penicillin rash:diffuse urticaria

11.166Urticaria: raised,reddish weals

11.167 and11.168Urticaria:maculopapularlesions with urticarial

THE LEGS

249

erythema ab igne (11.169). Chronic exposure of the skin toheat produces a heavy deposit of melanin in the basal layerof the epidermis over the capillary network, forming thedark brown reticulation (11.170). In some cases, with recur-rent exposure to a high intensity of heat, abrasions andulcerations are formed, which heal with depigmentation(11.171). There are two main clinical implications of ery-thema ab igne. First, there may be an underlying disorder

of cold-intolerance such as hypothyroidism. Second, con-tinual thermal damage may lead to cutaneous malignancy.

Palmoplantar hyperkeratosis (tylosis) occurs on thepalms (see 9.107; p. 177) but it is often more marked onthe soles (11.172,11.173).

Carotenaemia. which has been referred to in Chapter 9(see 9.185; p. 193), may be easily recognizable by lookingat the soles (11.174).

11.169, 11.170and 11.171Progressiveerythema ab igneleading to ulcerationand disorderedpigmentation

11.172 and11.173Tylosis: thickenedskin withhyperkeratosis andfissuring

11.174Carotenaemia:yellowish skin


Kaposi's sarcoma usually begins on the leg as a collec-tion of bluish-red macules and papules that gradually coa-lesce to form larger lesions (11.175). Spread then occurs toother parts of the skin and to almost every organ, espe-cially the gastrointestinal tract. Kaposi's sarcoma is fre-quently associated with the acquired immunodeficiencysyndrome and with some cases of lymphoma.

Hyperlipidaemias produce a variety of cutaneous le-sions on the legs. Eruptive xanthomas (11.176) occur inuncontrolled insulin-dependent diabetes mellitus in asso-ciation with hypertriglyceridaemia. These are small, yellowpapules, 1-5 mm in diameter, surrounded by a rim of ery-thema, and appear over the extensor surfaces, particularly

over the joints of the limbs and buttocks. Although thelesions present most often in diabetes with an associatedrapid rise in serum triglycerides, they can occur in any formof hypertriglyceridaemia. The serum is milky-white in suchpatients.

Tuberous xanthomas are yellowish nodules of varyingsize and occur on the elbows, buttocks and knees (11.177).

Tendinous xanthomas, from diffuse infiltration of thetendons with cholesterol, occur mainly on the extensortendons (11.178, 11.179). These lesions are strongly sug-gestive of familial hypercholesterolaemia. Table 11.4 showsthe relationship of various types of xanthomata with thevarious lipoprotein disorders.

11.175Kaposi's sarcoma: abluish-red papulesurrounded by ayellowish-green halo

11.176Papular eruptivexanthomata:multiple, discreteyellowish-pinkpapules

11.177Yellowish papulesand nodules

11.178 and11.179Tendinousxanthomata:subcutaneousnodules attached totendons

Table 11.4 Relationship of the type of xanthomata to thevarious types of lipoprotein disorder

Xanthomata

Xanthelasmata

Tendon xanthomata

Tuberous xanthomata

Eruptive papular

xanthomata

Lipoprotein disorder

Normolipaemia or familial

hypercholesterolaemia/

dyslipoproteinaemia

Type lla familial hypercholesterolaemia

Familial dyslipoproteinaemia/

hypertriglyceridaemia, familial

(homozygous) hypercholesterolaemia(types lla, III, IV)

Familial dyslipoproteinaemia/

hypertriglyceridaemia, familial

lipoprotein lipase deficiency (types I,

II, IV, V), diabetes mellitus

Palmar xanthomata Familial dyslipoproteinaemia (type

A capillary haemangioma (port-wine stain) can occa-sionally occur on the lower extremities. It is present atbirth, is not raised above the level of the skin, and variesfrom a few centimetres in size to an extensive sheet butdoes not cross the midline (11.180).

Haemochromatosis may be recognized by the charac-teristic slate-grey pigmentation (11.181), which is the resultof the deposition of haemosiderin and melanin in the skin.Such a patient may also have hepatosplenomegaly from anassociated cirrhosis.

Although clubbing may have been noticed already in thefingers of a patient, it may be more florid in the toes(11.182).

11.180Port-wine stain

11.181Grey and dark-brown pigmentationof sun-exposed

11.182Clubbing andcyanosis of the toes


252

Scurvy is not as rare in the Western hemisphere as is gen-erally supposed. The condition is caused by a dietary defi-ciency of ascorbic acid. It occurs in children who do notget citrus fruit and in old people who do not eat fruit,vegetables or salads. The disorder is characterized byanaemia, ecchymoses and perifollicular purpura on theskin (11.183), haemorrhages into the periostium in chil-dren, intramuscular and articular haemorrhages (11.184)and bleeding gums. The most characteristic cutaneousmanifestation is seen on the calves as follicular hyperker-atotic papules with haemorrhages (11.185).

Solar dermatitis occurs on the legs as it does on otherexposed parts of the body (see 1.299, 5.9, 9.68; pp. 59,124,170). The skin is brown with a reddish tinge and excessivefolds and there may be warty or reddish papules (11.186).

Keratoderma blennorrhagica (11.187) is a characteristicfinding in Reiter's syndrome though a similar appearanceis seen in pustular psoriasis. The lesions start as macules,papules or vesicles, which increase in size and develop pus-

tules in the centre. The surface becomes hyperkeratoticand crusted. Subungual pustules (11.188) result in ony-cholysis and hyperkeratosis. Apart from the cutaneouslesions the syndrome consists of an episode of arthritis(11.189), urethritis and genital lesions (11.190).

In secondary syphilis, papular lesions occur characteris-tically on the palms (see 9.205; p. 196) and soles (11.191).

Larva migrans (creeping eruption) is an infection bya larval nematode (mostly Ankylostoma caninum)that wanders through the subcutaneous tissues (11.192).The skin overlying the larvae develops an erythema-tous, serpiginous, papular rash associated with intenseitching.

Malignant melanoma (11.193) accounts for approxi-mately 5 % of all skin cancers and occurs overwhelminglyin white-skinned people. The developed lesion isusually about 8-15 mm in diameter, dark brown orblack, with a pink or bluish hue and marked variegation(11.194).

11.183Perifollicularpurpura. Notekeratin plugging ofsome follicles(perifollicularhyperkeratosis)

11.184Scurvy:haemarthrosis

11.185Follicularhyperkeratoticpapules

11.186Solar dermatitis:brown, tanned skinwith reddish-brownpapules andexcessive wrinkling

11.187Keratodermablennorrhagica:diffuse erythema,pustules with erosionand hyperkeratoticcrusting

11.188Subungual pustularlesions

11.189Reiter's syndrome:associated arthritisof the wrist andcarpometacarpaljoints

11.190Erosions andpustular lesions onthe glans and thepenile shaft

11.191Secondary syphilis:multiple, rosy-redpapules

11.192Larva migrans:circuitous tunnelroutes

11.193 and11.194Malignantmelanoma:variegated, purplishplaque with well-defined, irregularborder


Warts occur frequently on the feet. The common wart,from the human papilloma virus infection, is a large, firmpapule with a rough hyperkeratotic surface (11.195). Theplantar wart occurs on the plantar surface of the foot,where it is constantly pressed against the shoe by the

weight of the body and does not project much above theskin surface (11.196). Unlike corns, which represent athickening of the horny layer of the skin, warts containblood vessels which may bleed and, in time, give the warta darkish brown colour (11.197).

11.195A verrucous, skin-coloured nodule

11.196Flat-topped, blackish(thrombosedcapillaries withhaemorrhage)nodule

11.197Verruca plantaris:multiple, skin-coloured, verrucous,confluent keratoticnodules, two withthrombosedcapillaries and oldhaemorrhage(brownish-blacktops)

Index

Note:This index is in letter-by-letter order, whereby spaces and hyphens between words are ignored in the alphabetization (e.g. 'de Mussel's sign' follows'deep venous thrombosis')vs denotes differential diagnosis

Aabdomen 151-156

bruising, acute haemorrhagic pancreatitis154-155

inspection 151,152groins 155

liver disease 152-154obesity 151see also umbilicus

abdominal wall veins, dilatation 152,153abscess

cold 135,155cornea 98eyelash follicle 93tuberculous 135,155

Acanthamoeba 97acanthamoebic keratoconjunctivitis 97acanthosis nigricans, axillae 149accelerated hypertension

papilloedema 109retinal haemorrhages 109,113

acnechemical 40steroid 40tropical 40

acne rosacea 36acne vulgaris 39

scarring 40acquired immunodeficiency syndrome

(AIDS) see AIDSacrocyanosis 188acromegaly

clinical features 6diagnosis 5-9

definitive 9facial features 3-9feet 223,224hands 187legs 223-224malocclusion of teeth 8tongue 6,7,80

acropachy 15acute ulcerative gingivitis 76-77Addison's disease

clinical features 18facial features 18-19hands 187laboratory diagnosis 19lips 71mouth and tongue 3palmar creases 19,192pigmentation 18, 71

adenitistuberculous see tuberculous adenitis

adenoma sebaceum, tuberous sclerosis vs 51

adipose 'necklace' 12adrenocorticotrophic hormone (ACTH),

Cushing's disease diagnosis 13age, hypertensive retinopathy and 112AIDS

cervical lymphadenopathy 135Kaposi's sarcoma 250retinal CMV infection 120

Albright's syndrome 148alcoholic cirrhosis, pigmentation 51alcoholism, buffalo hump 12allergic conjunctivitis 94, 95alopecia 1

non-scarring 53see also hair loss

alopecia areata 53, 54alopecia totalis 53alopecia universalis 54amiodarone, chronic therapy,

hyperpigmentation 51,52amputations

diabetes mellitus 218, 219toes, diabetes 218

amyloidosis, primary, tongue 80amyotrophy

diabetic 222anaemia

aplastic see aplastic anaemiaeyes 1hypopituitarism 20iron deficiency see iron deficiency anaemialeucoerythroblastic 97pallor 58

angiitis, hypersensitivity 56angiofibroma 51angiogranuloma 78angiography

diabetic retinopathy 118angioid streaks 121angiokeratoma corporis diffusum, umbilical

papules 154angioma

cherry 155multiple, oral mucosa 71, 83

angioneurotic oedema 36angular cheilitis 69, 86angular stomatitis 69, 70, 82ankle

Charcot's 218inversion 233septic arthritis 228

ankle jerks, testing 17ankylosing spondylitis

chest appearance 142chronic anterior uveitis 100-101

thoracic kyphosis 139uveitis and iritis 100, 101

Ankylostoma caninum 252anonychia 198anonychia congenita 202anorexia nervosa, facial features 66anterior chamber, pus (hypopyon) 100anterior interosseous nerve, injury 182anterior synechiae 100anthrax, hands 172aorta, coarctation 131aortic incompetence, Corrigan's sign 135aortic valve disease 57apex beat, displacement 141aphthous ulcers 77

Behcet's syndrome 84, 85Crohn's disease 70, 71major 77punched-out 83

aplastic anaemiapalatal lesions 86, 87subconjunctival haemorrhage 97

'apple-jelly'lesions 41,55arachnodactyly 185

Marfan's syndrome 225arcus

diabetes mellitus 1, 99familial hypercholesterolaemia 50, 99

arcus juvenilis, 51, 99,100arcus senilis 99Argyll Robertson pupils 29arterial insufficiency, legs 234, 237

chronic 236arteriovenous crossings, hypertensive

retinopathy 113arteriovenous fistula, pulmonary 53arteriovenous 'nipping,' retinopathy 113arteritis

digital see digital arteritisgiant cell (temporal) 59, 63

arthritisgouty see gouty arthritisosteoarthritis see osteoarthrosisReiter's syndrome 252rheumatoid see rheumatoid arthritisseptic see septic arthritis

arthritis mutilans 163arthropathy

Charcot's 218hand see handspyrophosphate (pseudogout) 227, 231-232

ascites 151,152obesity appearance vs 151-152tense 153,154

astereognosis 179

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INDEX

256 asymmetry, facial 66atherosclerosis obliterans

foot appearance 236,237livido reticularis 243

atopic dermatitis (eczema)facial 35herpes simplex infections and 35, 89

atopic triad 35atopy, otitis externa and 124atropine, pupil dilatation 101attic granuloma 128auditory meatus, external 123

examination 34,123auricle (pinna) 123auriscopes 126,127autonomic neuropathy, diabetes mellitus 219axial reflex, ophthalmoscopic 107,122axillae

examination 149excessive skin folds 138hair loss 21lesions and infections 149-150

axillary freckling 53

Bbacterial endocarditis see infective

endocarditisBaker's cyst 229band keratopathy 98basal cell carcinoma

common sites 38facial 38

B-cell lymphoma, nodules on legs 243Beau's lines 211Behcet's syndrome, tongue and oral mucosa

84-85Bell's palsy 30,31

examination 33Bell's phenomenon 33bitemporal enlargement, Paget's disease 62bitemporal hemianopia 8Bitot's spots 96black eschar, anthrax 172blackheads 39blepharitis 93

squamous 93ulcerative 93

blepharospasm 97blindness

retinitis proliferans 118trachoma 95

blind spot, enlargement 108blistering diseases

differential diagnosis 60facial 42-43,60see also bullae; pemphigoid; pemphigus

blistersblood, palatal 87dermal-epidermal, causes 43intradermal, causes 43pemphigoid 60, 246, 247pemphigus 246porphyria cutanea tarda 194,195pseudoporphyria 188see also bullae; vesicles

blood blisters, palatal 87bone, resorption, in periodontal disease 74-75

Bouchard's nodes 163Boutonniere deformity, rheumatoid arthritis

158Bowen's disease 149-150branchial cyst 132,133breast

cancer 146gynaecomastia 146,152normal 145puckering and indrawing 146Turner's syndrome 145

breath sounds 141bronchiectasis 144bronchogenic carcinoma

hand and nail signs 191,206tracheal deviation 136see also lung carcinoma

bronzed diabetes 51bruising

abdominal, acute haemorrhagic pancreatitis154-155

Cushing's syndrome 13postvenesection 13

buccal mucosa see oral mucosaBudd-Chiari syndrome 146Buerger's disease 238buffalo hump 5,12

Cushing's syndrome 9,12bulbospinal muscular atrophy 30bullae

diabetic 222haemorrhagic, necrotizing vasculitis 242porphyria cutanea tarda 49-50see also blistering diseases; blisters

bullosis diabeticorum 222bullous impetigo 39butterfly rash 47,173

Ccachexia 144cafe-au-lait spots 52, 90

chest 148caffeine, staining of gums and teeth 72calculus, oral

cystic fibrosis 72, 73supragingival 73

callus, subungual 174Campbell de Morgan spots 155Candida albicans 85

nail infections 199candidiasis

oral 85-86pseudomembranous 85-86

capillary haemangioma (port-wine stain) 57legs and trunk 252

caput medusae 154carcinoma see individual carcinomas, organscaries, dental 78carotenaemia

feet 249hands 192-193

carotid arteries 129carotid-cavernous fistula 28carpal tunnel syndrome 181-182

bilateral 182cassava 134cataract 103

immature 103senile 103

cavernous haemangiomafacial features 66lips 70

cavernous sinus thrombosis 25, 27cellulitis

erythema nodosum vs 240facial 40ischaemia of foot and 236, 237legs 241orbital 91

central retinal artery occlusion 110-111central retinal vein occlusion 111cerebrovascular disease, facial features 63cervical lymphadenopathy see lymph node

enlargement, cervicalcervical myelopathy 179cervical rib 131cervical rib syndrome 178

hands 178chalazion 93chancre, syphilitic 70Charcot joints 218

knee 218,232Charcot-Marie-Tooth disease

feet 232hands 178

Charcot's arthropathy 218, 232cheilitis 69

angular 69, 86cheilosis 69chemical acne 40chemosis see conjunctiva, congestioncherry angioma 155chest 141-150

ankylosing spondylitis 142apical flattening 143examination 141inspection 141normal anatomy 145scars 143,144,145

paper-thin 148skin disorders 146-148telangiectasia 146vascular abnormalities 145see also breast; rib cage

chicken pox see varicella (chicken pox)chilblain see lupus pernioChlamydia trachomatis 95,155cholangiocarcinoma 152cholesteatoma 127,128cholinergic urticaria 36chondrocalcinosis (pseudogout) 227,

231-232choroid 100-101

inflammatory changes 119melanoma 120,121pigmentation 119

choroiditis 119causes 119sun 119

choroidoretinitis 119causes 119histoplasma 120toxoplasma 119

chronic obstructive airways disease 136


INDEX

Chvostek's sign 185-186ciliary body 100-101ciliary congestion 99ciliary injection 99, 100,101cilioretinal artery 110circumcorneal congestion 99, 100cirrhosis

alcoholic, pigmentation 51hepatic, white nails 210see also portal cirrhosis

claw handin cervical rib syndrome 178ulnar nerve injury and 179, 180,181

claw toesCharcot-Marie-Tooth disease 232diabetes mellitus 217

clubbing of fingers 189. 190, 205appearance 144,179,189, 190, 205congenital 206cystic fibrosis 144, 189diagnosis 205-206examination 190hepatic failure 184misdiagnosis 205periungual erythema with 205-206thyroid acropachy vs 15

clubbing of toes 251club feet 232coal-dust tattoos 63coarctation of aorta 131coeliac disease 46cold abscess 135,155cold urticaria 36collateral veins 153-154colloid bodies 122coloboma 67

congenital 101comedones 39common colds, herpes simplex infection of

lips 69common peroneal nerve, injury 232-233complexion, hypopituitarism 20congenital erythropoietic porphyria

face 49,50hands 194

congenital syphilis see syphilis, congenitalcongestive cardiac failure 135, 214conjunctiva 93-97

allergic conditions 94, 95congestion (chemosis) 94

Graves' disease 15mucopurulent conjunctivitis 95red eye, causes 94

hypopituitarism 20infective conditions 95inflammation see conjunctivitisinspection 1,2,96pallor 93-94petechial haemorrhages 96pinguecula 96pterygium 95-96redness 94-95septicaemia sign 96signs 1, 2subconjunctival haemorrhages 97trachoma 95xerosis 96

conjunctival fornix, pallor 94conjunctivitis

allergic 94,95corneal ulcer with 98mucopurulent 95vernal 94,95

connective tissue disorderscutaneous manifestations 46-49mixed 175,212vasculitis 56see also specific disorders

contact dermatitisfacial 35neck 136-137nickel 137,154

contagious pustular dermatitis, hands 172cornea 97-99

abscess 98amiodarone deposition 52arcus see arcusband keratopathy 98degeneration 96dendritic ulceration 90glycolipid deposits 96infections 97inspection and signs 1,2,97scar 98ulcers 90,97-98see also keratitis

corns 254cor pulmonale 143Corrigan's sign 135cortisol

Addison's disease diagnosis 19Cushing's disease 13

Corynebacterium minntissimum 149coxsackie virus infection, tongue 84, 85cranial nerves

3rd (third)testing 25

3rd (third: oculomotor)palsy 23, 24, 25, 28

4th (fourth)palsy 25testing 25

5th (fifth)herpes zoster distribution 90mononeuritis multiplex 25

6th (sixth), palsy 24, 257th (seventh; facial), palsy 30, 31, 12610th (tenth)

injury 88palsy 88

llth (eleventh), palsy 13912th (twelfth), lower motor neurone lesion

80craniovertebral anomalies 131creeping eruption 252, 253Crohn's disease

facial features 66lips/oral lesions 70, 71rib cage 144,145

crusting, honey-coloured 38, 39cryoglobulinaemia 243crystal arthropathy

gout see goutpseudogout 227,231-232

Cullen'ssign 154-155Curth's modified 'profile sign' 205Cushing's disease, diagnosis 13Cushing's syndrome

clinical diagnosis 11-13clinical features 10,187facial features 9-13hands 187iatrogenic 12legs 223

cutaneous B-cell lymphoma 59cutaneous malignancy, erythema ab igne and

249cutaneous sarcoidosis see lupus perniocuticle (nail), systemic disorders involving

211-213cyanosis 190. 191

feet 219,237,251fingers 191,205hands 144,190,191mucous membranes 80, 81oral mucosa 80, 81tongue 80, 81

cyst(s)Baker's 229branchial 132,133ears 126,127retroperitoneal 152thyroglossal 132,133

cystic fibrosis 144clubbing of fingers 189mouth involvement 72

calculus formation 72, 73cytomegalovirus infection, retinal 119, 120

DDarier's disease 44, 45

neck lesions 137deep venous thrombosis 215, 234, 235de Mussel's sign 135dendritic ulceration, corneal 90dental caries 78dental plaque 73, 74dentures

ill-fitting 3, 69dermal-epidermal blisters, causes 43dermatitis

atopic see atopic dermatitis (eczema)contact see contact dermatitiscontagious pustular, hands 172discoid (nummular) eczema 247dyshidrotic eczematous, hands 170solar, legs 252

dermatitis artefacta 44, 45dermatitis herpetiformis 46,47, 59

differential diagnosis 60facial features 46, 47, 59hands 194legs/feet 245-246papulovesicular lesions 60

dermatology 34dermatomyositis 48^-9

facial features 1, 48-49hands 175,211nails 211

dermatophyte infections, hands 171-172see also fungal infections

257


INDEX

258 dermatosesfacial features 34-45hands 166-173legs 244-254see also face; hands; legs; specific disorders

dermopathydiabetic 188,219,220

diabetes, bronzed 51diabetes mellitus

arcus around cornea 1, 99erysipelas 40foot abnormalities

bullae 222granuloma annulare 221-222

foot ulcers 217-218gangrenous 219neuropathic 217-218punched-out 218

hand lesions 187-188leg abnormalities 217-222

amputations 219amyotrophy 222dermopathy 188,219,220gangrene 219granuloma annulare 221-222lipoatrophy 221necrobiosis lipoidica diabeticorum 187,

216,220-221,221,222neuropathic ulcers 217-218peripheral vascular disease 219

leg assessment 217retinopathy 114-117

soft and hard exudates 114, 115diabetic amyotrophy 222diabetic bullae 222diabetic dermopathy 188, 219, 220diabetic neuropathy 217, 222digital arteritis

foot 239rheumatoid arthritis 229, 239

digital ischaemia 212digital spasms 174digital ulceration, systemic sclerosis 174diphtheria, tonsils and fauces 87diplopia 25disclosing tablets 74discoid eczema 247discoid lupus erythematosus 59dorsal guttering 177,180,181dot and blot haemorrhages 114Down syndrome 61drug eruptions

chest 147legs 248

drug-induced conditionserythema multiforme 37gum hyperplasia 75hyperpigmentation 51, 52lupus 47, 48penicillin rash 248tetracycline staining of teeth 72

Dupuytren's contracture 189dyshidrotic eczematous dermatitis, hands 170

ears 123-128absence 123-124

atrophic deformities 126chronic middle-ear disease 128congenital malformation 123-124cysts 126,127environmental exposure effect 124examination 123external, normal structure 123fibroma 126,127gangrene 124gouty tophus 165hyperkeratotic nodules 124necrosis 125otitis externa 124,125,126otitis media see otitis mediaposition, Klippel-Feil syndrome 131tumours 126,127see also tympanic membrane

ecchymoses see bruisingectodermal dysplasia 202, 204, 205

anhidrotic 204hidrotic 204

eczemacontact see contact dermatitisdiscoid (nummular) 247see also dermatitis

eczema herpeticum 35, 89edrophonium

ptosis assessment 24test, myasthenia gravis 32, 33

effusion, knee 227,229effusions

knee 226,229pleural, yellow-nail syndrome and

208-209Ehlers-Danlos syndrome

angioid streaks 121chest 148facial features 64hands 189joint laxity 64,189, 190, 228osteoarthrosis of knee 228paper-thin scars 64,148, 228

Eisenmenger's syndrome 213elbow

acute gout 162linear scars 180osteoarthrosis 180,181septic arthritis 164,166

elbows 165rheumatoid nodules 165

elderlyacanthosis nigricans 149arcus senilis 99macular degeneration 121,122

endocrine disordersfacies 3-21,53-54hands 186-187legs 217-224see also anatomical regions (e.g. hands);

individual disordersepicanthic fold, mongolism 61epidermolysis bullosa 188epilepsy, phenytoin therapy 75epiloia see tuberous sclerosisepiscleritis 102epithelioma, intraepidermal (Bowen's

disease) 149-150

epulis 77-78large/gigantic 78

eruptive xanthoma see xanthomataerysipelas

facial 40, 90, 91orbital involvement 90, 91

erysipeloid, hands 171erythema, migratory necrolytic 54, 55erythema ab igne 216, 249erythema multiforme 37

differential diagnosis 60distribution 37drug-induced 37hands 169,170

erythema nodosum 55causes 240differential diagnosis 240hands 193legs 215, 239-240,240, 241

erythematous induration, erysipelas 40erythrasma, axillae features 149erythrodontia, congenital erythropoietic

porphyria 49erythrosin 74exanthemata, infectious, facial 43-45'exclamation mark' hair 53exophthalmos (proptosis), Grave's disease 14,

91external rectus palsy 2eye(s) 89-103

conjunctiva see conjunctivacornea see corneainspection 1-3inspection and signs 1, 2lens 103normal 89orbit see orbitproptosis see proptosisptosis see ptosispupils see pupilsred 94-95sclera 102-103structures 89tethered 16uveal tract 100-101see also optic fundus

eyeballadduction

failure 25,26testing 25, 26

axial protrusion see proptosiseyebrows, loss 54eyelashes

alopecia 1in Bell's palsy 33buried, lid retraction with 15inspection and signs 1, 2loss, alopecia universalis 54

eyelids 89-93droopy 22

see also ptosisheliotrope rash 1inspection and signs 1, 2lupus pernio 92redness and welling 91retraction 15,16

assessment 16


INDEX

styes 93xanthelasma 92

eye muscles, palsy 2see also ocular palsies

Fabry's disease, umbilical papules 154face 1-68

'droopy' 2endocrine facies 3-21, 53-54

acromegaly 3-9Addison's disease 18-19Cushing's syndrome 9-13Graves' disease 14-16hypopituitarism 19-21hypothyroidism 16-17

flushing 57generalized wasting 66immobile 2inspection 1mask-like 67miscellaneous disorders 60-68

asymmetry due to 66cerebrovascular disease 63coal-dust tattoo 63congenital syphilis 64-65Down syndrome 61Ehlers-Danlos syndrome 64mucopolysaccharidoses 65nasal abnormalities 64, 65-66Paget's disease 62Parkinson's disease 67Treacher Collins syndrome 66-67underdevelopment 66

moon 9, 10neuromuscular facies 3,21-34,66

facial muscles 29-34ocular palsies 24-26proptosis 27-28ptosis 21-24pupillary abnormalities 28-29

normal 1-3skin and mucosal lesions 3, 34-60

blistering diseases 42-43, 60common conditions 34-38connective tissue disorders 46-49dermatoses 34-45diagnostic considerations 58-60gastrointestinal disorders 46genetic and metabolic disorders 49-53granulomatous disorders 54-56infections 38-42infectious exanthemata 43-45systemic disorder manifestations 46-60,

59vascular/haemovascular disorders 57-58vasculitic disorders 56

facial hemiatrophy 29, 66facial hemiparesis 31facial muscles

abnormalities 29-34attenuated 31. 32differential diagnosis 32-34voluntary movements 31wasting 29, 30weakness 29

facial nerve

Chvostek's sign 185-186palsy 30, 31,126

facial paralysis 30, 31facial plethora

Cushing's syndrome 9,10,11in lymphoma 134pellagra 59Pickwickian syndrome 129pseudoCushing's syndrome 14

faciesabnormal 3-68

see also facehypothyroid 16-17mitral 57myopathic 30thyrotoxic 16

facioscapulohumeral muscular dystrophy 30,31

clinical features 32familial hypercholesterolaemia 50, 58

arcus 50,99hands/elbows 58, 191legs and feet 250tendinous xanthoma 250see also xanthomata

fasciculations 177tongue 80

fat, depositionincreased, Cushing's syndrome 9, 11in obesity 151

fatiguabilitydermatomyositis 49haemochromatosis 51myasthenia gravis 33

faucesexamination 86-87infections and lesions 87

feet see footFelly's syndrome, palatal lesions 87ferritin 52fibroma

ears 126,127subungual 213tuberous sclerosis 51

fibromatosis, hyaline see hyaline fibromatosisfibrosing alveolitis 190-191,205fingers

clubbing see clubbing of fingerscyanosis 191,205see also entries beginning digital; hands

fingertips, loss 194fish-tank granuloma 171fistula

arteriovenous, pulmonary 53carotid-cavernous 28

flexion contracture, rheumatoid arthritis158

fluctuation, effusions 227fluorescein angiography

diabetic retinopathy 118fluorine, gums and teeth staining 72flushing, facial 57folliculitis 38foot

acromegaly 8, 223, 224arachnodactyly, Marfan's syndrome 225arterial insufficiency 236

in carotenaemia 249cellulitis 236, 237Charcot-Marie-Tooth disease 232club 232cold and cyanosis 237cyanosis 219,237,251diabetic bullae 222diabetic ulcers 217-218gout 230-231granuloma annulare 222infarction ulcers 229ischaemia 236, 237ischaemic ulcers 237Janeway lesions 240, 241keratoderma blennorrhagica 252Lawrence-Moon-Biedl syndrome 224neuropathic ulcers 217-218Osier's nodes 240, 241pseudohypoparathyroidism 224rheumatoid arthritis 229tinea (ringworm) 244trauma 237tylosis (palmoplantar hyperkeratosis) 249warts 254see also toes

foot drop 178, 232-233muscle wasting 233spastic 233

fovea 107avascular 107

foveal reflex 107Frank's sign 123Froment's test 180, 181frontal bossing 62, 65frontalis muscle

overaction 22, 24in ptosis 22, 24

fungal infectionshands 171-172nails 199-202

funnel chest 141

Ggag reflex, absent 88gait 225-232

high-stepping 178gangrene

diabetes mellitus 219digital arteritis causing 159, 160ears 124Raynaud's disease 174rheumatoid arthritis 159toes 237,238,239

gastrointestinal disorders, cutaneousmanifestations 46

Gaucher's disease, eyes 96genitalia

inspection 156Reiter's syndrome 253scabies 168

genu valgum 227genu varus 227giant cell (temporal) arteritis 35, 63gingivae see gumsgingival inflammation 74, 76

see also gingivitisgingival probe 74

259


INDEX

260 gingivitisacute necrotizing 76-77acute ulcerative 76-77chronic desquamative 77vitamin C deficiency (scurvy) 75

gingivosis 77glaucoma 101

acute congestive 101chronic, optic disc appearance 106optic atrophy 108

glomerulitis, focal necrotizing 55glossitis 82glucagonoma 53, 54

legs 222, 223tongue 80,81

gluten enteropathy (coeliac disease) 46goitre 133

causes 134endemic iodine deficiency 134eye signs 133multinodular

benign 133malignant 134toxic 133

nodular 135gonadal atrophy, hypopituitarism 20gonadotrophin failure, mouth 3Gottron's papules 48,175, 211gout, acute 162, 215

foot 215, 230-231hand 162

gouty arthritisacute 230chronic 160,161-162,165, 231

granulomaattic, in cholesteatoma 128fish-tank 171nasal 55, 56pyogenic see pyogenic granuloma

granuloma annulare 188diabetes 221-222feet, diabetics 221-222hands 187

granulomatosisLangerhans' cell (histiocytosis X) 91Wegener's see Wegener's granulomatosis

granulomatous disorders, facial features54-56

granulomatous vasculitis 56Graves' disease

clinical diagnosis 16clinical features 14eye signs 14,15,91, 133facial features 14-16laboratory diagnosis 16nail disorders 15pretibial myxoedema 223thyroid gland enlargement 132,133

Grey Turner's sign 155Groenblad-Strandberg syndrome, angioid

streaks 121groins, inspection 155growth hormone deficiency syndrome

neck 132undeveloped genitalia 156

gumma 86gummatous nodule, tongue 86

gums (gingivae) 72-78drug-induced hyperplasia 75healthy/normal 72hyperplasia 75hypertrophy 75hypoplasia 72infections 76inflammation 74-75, 76

see also gingivitisperiodontal disease 73-75pigmentation 72in pregnancy 77-78staining by caffeine/drugs 72swelling 75, 77ulcers 77

herpes simplex 69, 76self-biting 76see also aphthous ulcers

Gunn's sign 113Gunther's disease see congenital

erythropoietic porphyriaguttate psoriasis see psoriasis, guttategynaecomastia 146,152,153

Hhaemangioma

capillary see capillary haemangiomacavernous see cavernous haemangiomatongue 84

haemarthrosis 227,252haematological malignancies, erysipelas 40haematoma

buccal mucosa 87subungual 208

haemochromatosisface 51,52legs 251nails 213

haemolytic disorders, eyes 1haemorrhagic pustules, pyoderma

gangrenosum 238haemosiderosis

pigmentation of lips 71, 72transfusion 51

haemovascular disorders, facial features57-58

hairectodermal dysplasia 204, 205'exclamation mark' 53hypothyroidism 17in tinea capitis 41

hair follicle, empty pits 21hair loss

hypopituitarism 20, 21hypothyroidism 17see also alopecia

hair pits, pustules 38'half-and-half nails 210halitosis 77hands 157-196

acromegaly 8arthropathies 157-166

chronic gouty arthritis 160,161-162diagnosis 164-166osteoarthrosis 162-163psoriatic 163rheumatoid arthritis 157-161

septic 163see also rheumatoid arthritis

claw see claw handdeformities

Bouchard's nodes 163Boutonniere 158claw hand 178,179flexion 157,158Heberden's nodes 162,163'square-hand' 162swan-neck 158systemic sclerosis 173ulnar deviation 158,159Z-deformity 158,159

fundamental signs 190-196clubbing see clubbing of fingerscyanosis 144, 190, 191erythema nodosum 193nodular panniculitis 193Osier's nodes 193, 194pigmentation changes 191-192tuberous xanthomata 191vasculitic lesions 194

inspection 157neuromuscular disorders 177-183

deformities and palsies 179-183wasting 177-178

normal 8finger lengths 184

psoriasis 169sensory wandering 179signs of systemic disorders 183-189

acrocyanosis 188clubbing see clubbing of fingersdermatomyositis 175,211diabetes mellitus 187-188endocrine disorders 186-187hereditary haemorrhagic telangiectasia

176,177hypoparathyroidism 185,186Lawrence-Moon-Biedl syndrome 185Marfan's syndrome 185miliary sarcoidosis 189mixed connective tissue disease 175mycosis fungoides 195-196neurofibromatosis 176,177porphyrias 194-195pseudohypoparathyroidism 184-185secondary syphilis 196skin lesions 173-177SLE 173systemic sclerosis 173Turner's syndrome 184tylosis 177vasculitides 194vitiligo 175-176,176

skin lesions 166-173dermatoses 166,167-171diagnosis 166erythema multiforme 169,170infections 171-173lichen planus 169-170pompholyx 170psoriasis 168-169pyogenic granuloma 170,171solar keratosis 170systemic disorders 166,173-177


INDEX

types and causes 166warm/moist, thyrotoxicosis 16wasting 177-178see also nail(s)

hanging, marks on neck 139Hansen's disease see leprosyHarrison's sulcus 141hay fever 95heart failure, congestive 135,214heat exposure, legs 249Heberden's nodes 162, 163heliotrope rash 48, 49

eyelids 1,48hands 175

hemianopia, bitemporal 8Henoch-Schonlein syndrome 242-243hepatic cirrhosis, white nails 210hepatic failure

clubbing of fingers 184palmar erythema 183

hepatic porphyria 195hepatomegaly 152hepatosplenomegaly 153hereditary ataxia 232hereditary haemorrhagic telangiectasia

(Osier-Weber-Rendu syndrome) 52facial features 52, 53hands 176,177mouth and tongue 3mucosal telangiectases 71tongue telangiectases 83

hereditary motor and sensory neuropathy,hands 178

herniainguinal 155periumbilical 154umbilical 154

herpes simplex infectionseyes 89oral 69,76oral ulcers 76recurrent, erythema multiforme 37

herpes simplex type 1 infectionatopic dermatitis and 35, 89eyes 89

herpes simplex type 2 infection,keratoconjunctivitis 90

herpes zoster 42distribution 90eyes 89neck 136otitis externa and 124,125

herpes zoster ophthalmicus 90herpetic rash, external auditory meatus 34hidrotic ectodermal dysplasia 204hirsutism, Cushing's syndrome 11histiocytosis X, eyelid involvement 91histoplasmosis, ocular 120HIV-associated lipodystrophy syndrome 5Holmes-Adie syndrome 28, 29Horner's syndrome 23, 28Hurler's syndrome 65Hutchinson's sign 214hyaline fibromatosis 65

ears 127hydronephrosis, bilateral 152hypercalcaemia, band keratopathy and 98

hypercholesterolaemiacornea 99eyelid xanthelasmata 92familial see familial hypercholesterolaemia

hypercortisolism 13hyperglobulinaemia 243hyperkeratosis

feet 249nails 200,201palmar 177palmoplantar 177, 249perifollicular 252subungual 200,201

hyperkeratotic nodules, ears 124hyperlipidaemia

legs 250type III 192

hyperpigmentationacanthosis nigricans 149Addison's disease 18, 19causes 18drug-induced 51,52

hypersensitivity angiitis 56hypertension

accelerated see accelerated hypertensionportal see portal hypertension

hypertensive retinopathy 112-114hyperthyroidism 16hypertrichosis, porphyria cutanea tarda 49, 93hypertrophic pulmonary osteoarthropathy

146hyperviscosity syndrome 243

retinal vessels 110hypoalbuminaemia, nails 213hypocalcaemia 185,186hypogammaglobulinaemia 166hypoglossal nerve palsy, tongue 80hypognathism 123-124hyponychium 197hypoparathyroidism

clinical features 186hands 185,186

hypopituitarismclinical diagnosis 20clinical features 19facial features 19-21laboratory diagnosis 21legs 224

hypopyon 100hypothenar eminence, flattening 180, 181hypothyroidism

acromegaly vs 3-4clinical features 17erythema ab igne and 249facial features 4, 5,16-17pituitary 20see also myxoedema

hypoxaemia 143hypoxia, retinal neovascularization 117

Iimmunocompromised states, erysipelas 40impetigo 39

bullous 39impetigo contagiosa 38-39infarction

cutaneous 56

Henoch-Schonlein purpura 243nailfolds see nailfold infarctsperipheral arterial insufficiency of legs 236,

237infarctive (Martorell's) ulceration 237infections

axillae 149-150cornea 97face 38-42facial 38-42fauces 87gums (gingivae) 76hands 171-173lips 69-70nails 199-202tongue 84,85-86see also individual infections

infectious exanthemata 43-45infectious mononucleosis

cervical lymphadenopathy 135palatal lesions 87

infective endocarditislegs 240Osier's nodes 193petechial haemorrhages 96, 97Roth spots 121splinter haemorrhages (nails) 207, 208

inferior temporal artery, occlusion 111inferior vena caval obstruction 152, 153inflammatory bowel disease, tongue lesions

82,83infraspinatus muscle, wasting 139inguinal hernia 155inguinal masses 155insulin-resistance syndrome, facial features 4,

5internal malignancies, signs 149internuclear ophthalmoplegia 25, 26interossei, wasting, rheumatoid arthritis 158interosseous nerve, injury 182interphalangeal joints

flexionclaw hand 178loss 182

'pinch-grip' 180, 181proximal

rheumatoid arthritis 157, 158spindle swelling 157

terminalosteoarthrosis 162, 163swelling 162

interstitial keratitis 99intracranial tumours 109intradermal blisters, causes 43'inverted champagne bottle' appearance

178iodine deficiency, endemic 134iridocyclitis 100

chronic 98iris 100-101

inspection and signs 1, 2melanoma 101'muddy' 1, 2, 100

iritis 1,100diagnosis 101

iron, elevated levels 51, 52iron deficiency, mouth 3

261


INDEX

iron deficiency anaemia 82conjunctiva 94tongue 80,81

ischaemia, foot 236, 237ischaemic heart disease, Frank's sign and

123

Janeway lesions 240, 241jaundice, abdomen 152jaw, lower

acromegaly 3, 6, 7Paget's disease 62

Jod-Basedow phenomenon 133joints

effusions 226,227hyperextensible, Ehlers-Danlos syndrome

64,189, 190, 228journal test of Froment 180,181jugular foramen syndrome 88jugular veins 129

KKaposi's sarcoma, legs 250Kaposi's varicelliform eruption 35Kayser-Fleischer ring 98keratitic precipitates 100keratitis

interstitial 99sclerosing 98, 99,103superficial punctate 90

keratoacanthoma, ear 126keratoconjunctivitis 90

acanthamoebic 97herpetic 90

keratoconjunctivitis sicca 1keratoderma 177keratoderma blennorrhagica 252keratomalacia 96keratosis follicularis (Darier's disease) see

Darier's diseasekidney, transplanted 153Klinefelter's syndrome, genitalia 156Klippel-Feil syndrome 131

neck 130, 131knee

Charcot's joint 218,232disorders 227effusion 226,227,229osteoarthrosis 226-227, 227, 228pseudogout 227,231-232psoriasis 58rheumatoid arthritis 227, 228-229septic arthritis 227, 228

knee jerk, loss 222knuckles, tuberous xanthomata over 191Koebner phenomenon 245Koenen's tumours 213koilonychia 202-203, 212

acquired 203congenital 202,203,204

Koplik's spots 44, 84kyphoscoliosis 142

ankylosing spondylitis 142congenital 142

kyphosis 142

LLangerhans' cell granulomatosis 91lanula 197

absence 197,210,213blue 213discolouration 213

larva migrans 252, 253lateral medullary syndrome, uvula deviation

ccooLawrence-Moon-Biedl syndrome

feet 224hands 185

left lateral medullary syndrome 88legs 215-254

cellulitis 241clinical signs 217endocrine disorders 217-224

acromegaly 223-224Cushing's syndrome 223diabetes mellitus see diabetes mellitusglucagonoma 222, 223hypopituitarism 224Lawrence-Moon-Biedl syndrome 224pseudohypoparathyroidism 224thyroid disease 223

fundamental signs 215vasculitis 239

inspection 215-217visual scan 216, 217

locomotor problems 225-232see also locomotor problems

muscle wasting 233neuromuscular disorders 232-233oedema 234skin lesions 244-254

capillary haemangioma (port-wine stain)251

carotenaemia 249dermatitis herpetiformis 245-246discoid (nummular) eczema 247drug eruptions 248erythema ab igne 249haemochromatosis 251Kaposi's sarcoma 250melanoma 252, 253nodular prurigo 247palmoplantar hyperkeratosis 249pemphigoid 246, 247pemphigus 246pityriasis versicolor 244psoriasis 245, 252Reiter's syndrome 252scurvy 252seborrhoeic warts 149secondary syphilis 252, 253solar dermatitis 252tinea (ringworm) 244

ulcers 216vascular and systemic disorders 234-243

in acute meningococcaemia 240, 241arterial insufficiency 234, 236, 237atherosclerosis obliterans 236, 237B-cell lymphoma 243deep venous thrombosis 234, 235erythema nodosum 239-240Henoch-Schonlein purpura 242-243

infarctive (Martorell's) ulceration 237infective endocarditis and 240, 241oedema 234pyoderma gangrenosum 238rheumatoid arthritis 239SLE 243thromboangiitis obliterans 238vasculitis 239Wegener's granulomatosis 240, 242

yellow-orange plaques 216lens 103

cataracts 103inspection and signs 1, 2opacification 103

lentigines, Peutz-Jeghers syndrome 46leprosy

ears 124,125tuberculoid, anaesthetic macules 150ulnar nerve involvement 181

Leser-Trelat sign 149lethal midline granuloma 240leuconychia 210

striate 210-211leucoplakia 79leukaemia, acute

myelomonocytic, swollen gums 76palatal lesions 87swollen gums 76

lichenification 35, 36,139lichen planus

genitalia 156hands 169-170nails 198, 199tongue 84

lichen sclerosis atrophicus, neck lesions 137lichen simplex chronicus, neck lesions 139lid lag 16lid retraction see eyelids, retractionligature marks, neck 139lip(s) 69-71

granulomatous infiltration 70infections 69-70inflammation 69pigmentation changes 71,72pouting 30systemic sclerosis 47

lipoatrophy, diabetes mellitus 221lipodystrophy

facial features 4, 5, 66HIV-associated syndrome 5tongue 6, 7

liver biopsy, haemochromatosis 52liver disease 152-154

chronic, clinical features 154chronic obstructive 192see also hepatic failure

livido reticularis 243locomotor problems 225-232

Charcot's arthropathy 232gout see goutMarfan's syndrome 225osteoarthrosis of knee 226-227Paget's disease 215, 226pseudogout 227,231-232rheumatoid arthritis 228-229septic arthritis 227, 228


INDEX

Lovibond's 'profile sign' 205lower motor neurone lesion, twelfth cranial

nerve 80low volume, low perfusion state 58lung carcinoma 144,145

gynaecomastia 146see also bronchogenic carcinoma

lungs, apical fibrosis 142lupus erythematosus

discoid 59drug-induced 47, 48systemic see systemic lupus erythematosus

(SLE)lupus pernio 41,55,59

ears 124,125eyelids 92face 41,55,59

lupus vulgaris 41lymph node enlargement

cervical 129,134causes 134,135toxoplasmosis 135

femoral 155inguinal 155lymphoma 134

lymphocytoma 59lymphoedema

chronic 41legs 235yellow-nail syndrome and 208-209

lymphogranuloma venereum 155lymphoma

cervical lymph node enlargement 134cutaneous B-cell 59T-cell 195-196

Mmacroglossia 6macula 107, 119-122

cherry-red 110,111normal 106-107senile degeneration 121,122

macular fan 109macules

anaesthetic 150hypermelanosis, neurofibromatosis 148hypomelanosis 175vitiligo 54, 175white 175

maculopapular lesionsdiabetic dermopathy 188urticaria 248

maculopapular rashacne rosacea 36drug eruption 147, 248erythema multiforme 37measles 43^44systemic lupus erythematosus 47varicella 44

maculopathy 116,117main-en-griffe (claw hand) 178, 179'main-en-lorgnette' phenomenon 163malabsorption

facial features 66glossitis 82hands 194

malar flush 17,57malignancy

acanthosis nigricans as sign 149cutaneous, erythema ab igne and 249

malignant melanoma see melanoma,malignant

malleus 127malnutrition

facial wasting 66tongue changes 82

mandibular dysostosis 66-67Marfan's syndrome

eyes 1hands 185height 225neck 129palate and arch 88

Martorell's ulceration 237maxillary hypoplasia 66-67,124measles 43^4, 84median nail dystrophy 208, 209median nerve

injury in forearm 182palsy 181-182

meibomian gland, swelling and infection93

melanoma, malignantchoroid 120, 121iris 101legs 252, 253nails 214

meningitis, meningococcal see meningococcalmeningitis

meningococcaemia, fulminant 240gangrene of ear 124, 125legs 240,241

meningococcal meningitiscutaneous features 56petechial haemorrhages 96

metabolic disorders, facial features 49-53metacarpophalangeal joints

extension failure 183hyperextension 178subluxation, rheumatoid arthritis 158swelling, rheumatoid arthritis 157, 158

metatarsophalangeal joint, acute gout 215microaneurysms, retinal 114, 116microinfarcts, chronic arterial insufficiency of

legs 236middle-ear disease, chronic 128migratory necrolytic erythema 54, 55Mikulicz's aphthae 77milia, hands 195miliary sarcoidosis 189miosis 1mitochondrial myopathy, ptosis 24mitral facies 57mitral stenosis, malar flush 57mitral valvotomy, scar 145mixed connective tissue disease, hands 175,

212mollusca fibrosa 52molluscum sebaceum (keratoacanthoma), ear

126moniliasis, gingival 76monoarthritis, acute

diagnosis 165-166effusions with 227pseudogout 231

mononeuritis multiplex 25fifth cranial nerve in 25

moon face 9,10morning stiffness, rheumatoid arthritis 157motor neurone disease

global wasting 177hands 177muscle wasting and foot drop 233tongue wasting 80, 81

mouth 69-88Down syndrome 61inspection 3lips see lip(s)see also entries beginning oral; gums;

teethmucopolysaccharidoses, facial features

65mucosis fungoides 195-196mucous membrane

facial see face, skin and mucosal lesionsoral see oral mucosapalatal, purpuric spots 86, 87

Muehrcke's nails 213multiple endocrine neoplasia (MEN), type

lib, tongue 82,83multiple myeloma, retinal vessels 110multiple sclerosis, ocular palsy 25mumps 68muscle pain, systemic sclerosis 49muscle wasting

facial 29,30foot drop 233generalized

face 30,266hands 177-178legs 233see also wasting

muscular atrophy, bulbospinal 30muscular dystrophy, global wasting 177myasthenia gravis

edrophonium test 32, 33fatiguability 33ptosis 23,24,30

mycobacteria, atypical 171Mycoplasma pneumoniae 38mycosis fungoides 195-196mydriatics 105myelinated nerve fibres, optic disc 110myopathic facies 30myopathy

mitochondrial, ptosis 24ocular 25

myotonic dystrophyclinical features 32facial muscles 30, 31ptosis 23,24slow relaxation of muscles 32testes 156

myxoedema 17facial features 17, 57pretibial 15,16,223tongue 80see also hypothyroidism

263


INDEX

264 Nnaevus

congenital, nails 208spider 46subungual haematoma vs 208

nail(s) 197-214anatomy 197Beau's lines 211biting 206,207blue 213congenital disorders 202-214

anonychia congenita 202clubbing 206deformities included 202ectodermal dysplasia 204-205koilonychia 202-203,204,212naevus 208pachyonychia congenita 204

dermatological diseases 198-202fungal infections 199-202lichen planus 198,199psoriasis 58,59,163, 168,198

discolouration 198, 212, 213dystrophy 163,199,200

digital ischaemia 212medial 208,209total 201

growth 207'half-and-half 210inspection 202lanulae 197melanoma 214Muehrcke's 213nicotine staining 206normal 197,203,205onychogryphosis 206overcut 207parakeratotic lesions 198pitting 198

psoriasis 168porphyria cutanea tarda 212, 213social and cosmetic importance 202splinter haemorrhages 207

traumatic 207,208spoon 202-203striate leuconychia 210systemic disorders 202-214

cardiac failure 214connective tissue disorders 210-212Eisenmenger's syndrome 213hepatic cirrhosis 210hypoalbuminaemia 213nephrotic syndrome 213porphyrias 212-213systemic lupus erythematosus

210-211thyroid disease 15tuberous sclerosis 213

Terry's 210thin fragile 210transverse ridging 206trauma 208tumours 214vertical ridging 198,199, 204white 210yellow, syndrome 208-209yellow-brown 204

see also entries beginning onycho andsubungual

nail bed 197normal 205soft tissue enlargement 205thickened, in clubbing 190

nailfold(s)fissuring 211lateral 197proximal 197

angles to nail plate 205systemic disorders involving 211-213

nailfold infarctsdermatomyositis 211mixed connective tissue disease 175, 212rheumatoid arthritis 159, 212systemic lupus erythematosus 173, 243systemic sclerosis 212

nail-patella syndrome 202, 210nail plate 197

after nail biting 207angles 205concave 203congenital deficiency 202fracture 201thinning 198

nasal discharge 55nasal granulomata 55, 56nasal polyps 65, 144nasolabial folds, papules in 51neck 129-140

ankylosing spondylitis 139attempted hanging, marks 139congenital abnormalities 129craniovertebral abnormalities 131cysts 132,133diagnostic problems/signs 129joint disorders affecting 139-140Klippel-Feil syndrome 130,131length 129lymphadenopathy see lymph node

enlargement, cervicalneuromuscular disorders 139shortness 129skin diseases 136-139thin patients, signs 136tuberculous abscess 135tuberculous adenitis 134-135Turner's syndrome 131vascular signs 135,145webbing 131, 132

necrobiosis lipoidica diabeticorum 187, 216,220-221,221,222

necrolytic migratory erythema 222necrotizing vasculitis, legs 234neovascularization, retinal 117,118nephrotic syndrome, nails 213neuroblastoma, eyelid involvement 91, 92neurodermatitis 247neurofibromatosis 52, 53

chest appearance 148eyelids 90,91hands 176,177

neurofibrosarcoma 52neuroma, oral mucosa 82, 83neuromuscular disorders

face 3,21-34,66

hands 177-183legs 232-233neck 139see also hands; legs; neck; individual

disordersneuromuscular facies 3,21-34,66neuropathic ulcers, diabetes 217-218neuropathy, diabetic 217, 222neurosyphilis, pupillary abnormalities 28neurotic itch 247niacin deficiency 59nickel dermatitis 137, 154nicotine staining

fingers 191nails 206

Nikolsky sign 43nitrazepam rash 248nodular panniculitis, hands 193nodular prurigo, legs 247nodules, Osier's nodes 193, 194Noonan's syndrome 132nose

acromegaly 3,4, 5-6, 7bridge

depressed, congenital syphilis 64-65Ehlers-Danlos syndrome 64flattened 64,65

macules/papules around 51see also entries beginning nasal

nummular eczema 247

Oobesity

axial 5,11Cushing's syndrome 9, 11short neck and 129simple 11,151

ascites comparison 151-152truncal 11

ochronosis 213ocular histoplasmosis syndrome 120ocular myopathy 25ocular palsies 2, 24-26

differential diagnosis 25proptosis with 27ptosis 23,24,25see also cranial nerves

oedemaangioneurotic 36legs 234optic nerve head 108periorbital, Graves' disease 14pitting 235

oesophageal carcinoma 177onychatrophy 198,199

congenital 202fungal infections 200

onychia punctata 198onychodystrophy

digital ischaemia causing 212see also nail(s), dystrophy

onychogryphosis 206onycholysis 198,199

fungal infections 199, 200, 201Graves' disease 15

onychomycosis 199-202distal/lateral subungual 199-200


INDEX

total dystrophic 202onychophagia (nail biting) 206,207ophthalmia neonatorum 95ophthalmopathy, exophthalmic 16ophthalmoplegia, internuclear 25ophthalmoscopes 105optic disc 107-110

angioid streaks 121atrophy 107-108

central retinal vein occlusion and 112glaucomatous 108

examination 107glaucomatous cupping 106hyperaemia surrounding 108myelinated nerve fibres 110noninflammatory oedema 108normal 106,107papilloedema 108-109,114physiological cupping 106, 107subhyaloid haemorrhage 110

optic fundus 105-122abnormal 107-122colour 106examination 105-106hypertensive 112-114normal 106-107normotensive 112optic disc see optic discretinal vessels see retinal vesselssee also macula; retina

optic nerve head 106noninflammatory oedema 108see also optic disc

oral hygiene 73oral mucosa

cyanosis 80, 81haematoma 87lichen planus 84, 85multiple angiomata 71,83neuroma 82, 83pigmentation, Addison's disease 19, 71ulcers

herpes simplex infection 69, 76Stevens-Johnson syndrome 84ulcerative colitis 82, 83see also aphthous ulcers; gums (gingivae)

see also gums (gingivae)orbit 89-93

cellulitis 91Grave's disease 14neurofibromatosis 90, 91normal 14,27,28pigmentation 92proptosis 27, 28

orbital furrow, obscured 28orf, hands 172oropharynx, mucosal eruptions 84Osier's nodes 193, 194, 240

foot 240,241Osier-Weber-Rendu syndrome see hereditary

haemorrhagic telangiectasiaosteoarthrosis 228

elbow 180, 181hands 162-163knee 226-227,227,228shoulder 163

osteogenesis imperfecta

blue sclerae 102eyes 1

osteogenic sarcoma 226osteo-onycho-dysplasia (nail-patella

syndrome) 202,210otitis externa 124, 125, 126otitis media 127

"burnt-out' chronic 127otoscopes 126,127

pachydermoperiostosis 4pachyonychia congenita 204Paget's disease

acromegaly vs 3-4facial features 62leg curvature 215,226

palate 86-88examination 86-87perforation 87purpuric spots 86, 87

pallorconjunctival 93-94facial 20, 57,58, 94

iron deficiency anaemia 82legs 237

palmar creasesAddison's disease 19, 192colour 191-192

palmar erythemaDupuytren's contracture with 189hepatic failure 183rheumatoid arthritis 158,159,212

palmar hyperkeratosis 177palsy

Bell's see Bell's palsyeleventh cranial nerve 139external rectus 2eye muscles 2facial nerve 30, 31,126hands 179-183hypoglossal nerve 80median nerve 181-182ocular see ocular palsiesoculomotor (third) nerve 23, 24, 25, 28radial nerve 183sixth cranial nerve 24, 25tenth cranial nerve 88ulnar nerve 179,180,181

pancreatitis, acute haemorrhagic 154-155panniculitis, nodular

erythema nodosum vs 240hands 193

papilloedema 108,109, 114papular exanthem, syphilis 150papules 47

Darier's disease 45, 137hyperkeratotic 45lichen sclerosus atrophicus 137pseudoxanthoma elasticum 138sarcoid 125umbilical 154

papulovesicular rash 35, 147scabies 168

papyraceous scars, Ehlers-Danlos syndrome64,148, 228

Parkinson's disease, facial features 67

paronychia, chronic 199parotid gland

enlargement 67-68bilateral 68diffuse 68

malignant tumour 68pectus carinatus (pigeon chest) 141pectus excavatus (funnel chest) 141pellagra 59

glossitis 82pemphigoid

blisters 60chest 150differential diagnosis 60

pemphigus vs 43facial 43,60legs 246,247oral lesions 76

pemphigusdifferential diagnosis 60

pemphigoid vs 43facial 42,43legs 246oral lesions 76

pemphigus vulgaris 42-43'pencil and cup' sign 163penicillin rash 248periadenitis mucosa necrotica recurrens 77perifollicular purpura 252periodontal disease 72-75

advanced 74, 75canine drifting with 74

periodontium 72-73perionychial tissues

systemic disorders involving 211-213see also nailfold(s)

periorbital angular wrinkling, hypopituitarism20

periorbital oedema, Graves' disease 14periorificial lentiginosis 46

mouth lesions 46periostitis, congenital syphilis 65peripheral vascular disease

diabetes mellitus 219legs 234

arterial insufficiency 234, 236, 237periumbilical hernia 154periungual erythema 183,184, 211, 212

clubbing with 205-206periungual fibroma 213

tuberous sclerosis 51pes cavus 232petechial haemorrhages, conjunctival 96Peutz-Jeghers syndrome

cutaneous manifestations 46lips/oral lesions 71tongue pigmentation 82

pharyngitis, streptococcal 87pharynx 86-88

carcinoma 88examination 86-87, 88nodular lesions 87

phenytoin therapy, epilepsy 75phlebothrombosis 235photosensitivity, congenital erythropoietic

porphyria 49Pickwickian syndrome 129

265


INDEX

266 pigeon chest 141pigmentation

Addison's disease 18, 71choroid 119erythema ab igne 249gingival 72haemochromatosis 51, 52, 251lips 71slate-grey 51,52,251see also hyperpigmentation

'pinch-grip' 180,181pinguecula 96pinna (auricle) 123

see also earspityriasis versicolor see tinea versicolorPityrosporum ovale infection 148planar xanthoma 192plaque, dental 73, 74plethora, facial see facial plethorapleural effusions, yellow-nail syndrome and

208-209'plucked chicken skin' appearance 138pneumococcal pneumonia, herpes simplex

infection of lips 69poliomyelitis, leg muscle wasting 233polyarteritis nodosa, livido reticularis in 243polycythaemia, eyes 1polycythaemia rubra vera 58

hands 189polydactyly 185,224polyostotic fibrous dysplasia 148polyposis, Peutz-Jeghers syndrome 46polyps, nasal 65,144pompholyx, hands 170porphyria

congenital erythropoietic see congenitalerythropoietic porphyria

hepatic 195variegate 49,195

porphyria cutanea tarda 49-50, 59diagnosis 50differential diagnosis 60ears 124,125face 49-50,59hands 194,195hypertrichosis of outer canthus 93nails 212,213

portal cirrhosis 46, 68abdomen 152

portal hypertension 152,153,154intrahepatic 152

portal venous obstruction 153port-wine stain 57

legs and trunk 251posterior interosseous nerve, injury 182posterior synechiae 100pregnancy

gums (gingivae) 77-78multiple, gingival pigmentation 72

'pregnancy tumour,' oral 77-78pretibial myxoedema 15,16, 223'profile signs' 205prognathism 6, 7progressive muscular atrophy

muscle wasting and foot drop 233see also motor neurone disease

proptosis 27-28,91

assessment 27, 28Grave's disease 14neuroblastoma 91,92subconjunctival haemorrhage and 97unilateral 27

protoporphyrin, faecal 50proximal muscular weakness

Cushing's syndrome 13systemic sclerosis 49

pruritusfacial dermatitis 35larva migrans 252scabies 167

pseudoathetosis 179pseudoCushing's syndrome 12pseudogout, knee 227, 231-232pseudohypoparathyroidism

feet 224hands 184-185

pseudoporphyria 188, 195pseudoTurner's syndrome 132pseudoxanthoma elasticum

angioid streaks 121neck lesions 138

psoriasis 58chest 147distribution 169face 34-35guttate 34-35

chest 147hands 168-169,169knees 58legs 245,252nails 58, 59,163, 168,198pustular 252scalp 34

psoriatic arthropathy, hands 163pterygium

conjunctiva 95-96nails 198,199,202

ptosis 1, 21-24assessment 22-23bilateral 22,24,25

myopathic facies 30causes 22complete 22,24,26congenital 24differential diagnosis 22-24myasthenia gravis 23, 24, 30partial 22,24signs 1sympathetic paresis 23

pulmonary arteriovenous fistula 53pulse, slow, hypothyroidism 17pupils

abnormalities 28-29Argyll Robertson 29dilated 29

ptosis with 24Holmes-Adie syndrome 28, 29inspection and signs 1, 2myotonic 28small, ptosis and 23

purpurain acute meningococcaemia 240, 241anaphylactoid (Henoch-Schonlein

syndrome) 242-243

palatal 86,87palpable

facial 56Henoch-Schonlein purpura 242, 243

perifollicular 252purpura fulminans 241pustules

haemorrhagic, pyoderma gangrenosum 238hair pits 38subungual 252, 253

pyoderma gangrenosum 216legs 238

pyogenic granulomaepulis (in pregnancy) 77-78hands 170,171

pyrophosphate arthropathy (pseudogout)227, 231-232

Qquadrantanopia 8

Rraccoon eyes 92radial nerve paralysis 183Ramsay Hunt syndrome 34,126Raynaud's disease 174,188Raynaud's phenomenon 174

acrocyanosis vs 188dermatomyositis 49systemic sclerosis 48

red reflex 103Reiter's syndrome 252, 253renal disease, Wegener's granulomatosis 55,

56renal transplantation 153respiratory obstruction 36retina 119-122

angioid streaks 121cytomegalovirus infection 119,120detachment 118,122necrosis 120red reflex 103

retinal artery occlusion, central 110-111retinal haemorrhages

central retinal vein occlusion and 111, 112cytomegalovirus infection 120diabetes mellitus 114,115,116dot and blot 114flame-shaped 109hypertensive retinopathy and 113-114

retinal vein occlusion, central 111retinal vessels

abnormal 110-118hypertensive retinopathy 112-114hyperviscosity syndrome 110neovascularization 117, 118normal 106occlusive disorders 110-112retinitis proliferans 118soft and hard exudates 114,115,116venous engorgement 110

retinitis pigmentosa 120retinitis proliferans 118retinopathy

background 114diabetic 114-117hypertensive 112-114


INDEX

preproliferative 117proliferative 116,118

retroperitoneal cyst 152rhagades 47, 48rheumatoid arthritis

clinical features 164cutaneous changes 159digital arteritis 229, 239foot 229hands 157-161,212

advance deforming arthropathy 159Boutonniere deformity 158'burnt-out' 160, 161digital arteritis and gangrene 159,160flexion contracture 158flexion deformity 157metacarpophalangeal joint swelling 157,

158palmar erythema 158,159proximal interphalangeal joint swelling

157,158swan-neck deformity 158ulnar deviation 158,159Z-deformity 158,159

knee 227,228-229nailfold infarcts 159, 212palatal lesions 87scleromalacia perforans 103vasculitic lesions 165, 230

rheumatoid disease, clinical features 164rheumatoid factor 159rheumatoid nodules

elbows 165hands 157,158,159vasculitic lesions 165

rheumatoid vasculitis 165,230rib cage

ankylosing spondylitis 142Crohn's disease 144, 145deformities 141movements 141rigidity 143

riboflavin deficiency, mouth 3, 69rib recession 141, 144rickets, Harrison's sulcus 141rodent ulcer 38Roth spots 121rubeosis iridis 100

sabre shins 65sabre tibia 226saddle nose 64-65salivary glands 129salivary pellicle 73salmon-patch appearance, interstitial keratitis

99sarcoidosis 55

cutaneous (lupus pernio) see lupus pernioear lesions 124, 125eyelids 92facial features 54, 55miliary 189

Sarcoptes scabiei 167scabies 156

distribution 167genitalia 168

hands 167-168,168scalp

disorders 62psoriasis 34seborrhoeic dermatitis 93

scapulae, winging 32scars

chest 143,144, 145, 148cornea 98linear

elbow 180mitral valvotomy, 145paper-thin, Ehlers-Danlos syndrome 64,

148, 228thoracoplasty 143thoracotomy 144

sclera 102-103blue 1,2,102inspection and signs 1, 2normal colour 102yellow 1, 102

scleritis 102-103sclerodactyly 173, 174,175scleroderma see systemic sclerosisscleroderma of Buschke, neck involvement

139scleromalacia perforans 102,103sclerosing keratitis 98, 99sclerosis, hypertensive retinopathy 112scoliosis 142

thoracic 130,142, 143scurvy see vitamin C deficiencyseborrhoeic dermatitis, scalp 93seborrhoeic warts

axillae 149legs 149

self-biting ulcers 76self-induced injuries

ligature marks on neck 139mouth

gums 76lips 69

nail biting 206, 207nodular prurigo 247to perionychial tissues 211

senile macular degeneration 121, 122sensory wandering, hands 179septicaemia

conjunctiva 96optic fundus 121

septic arthritis 166ankle 228elbow 164,166hands 163knee 227,228wrist 164

shin spots (diabetic dermopathy) 188, 219,220

shoulder joint, osteoarthrosis 163sicca complex 68simian hand 182Sjogren's syndrome

facial features 68parotid swelling 68

skincold, dry, hypothyroidism 17creases, pigmentation, Addison's disease 19

excessive folding 138increased thickness, acromegaly 4,8loose 64,138pallor see pallorthin

assessment 12-13Cushing's syndrome 12, 187rheumatoid arthritis 159

skin foldsacromegaly 4, 8normal 8,13thin, Cushing's syndrome 12,13

skin lesions/diseasesfacial 34-45hands 166-173legs 244-254see also face; hands; legs; specific disorders

skullfracture of base 80, 92Paget's disease 62

sleep apnoea syndrome 129smoking

gingival pigmentation 72lung cancer see bronchogenic carcinomanicotine stains see nicotine stainingthromboangiitis obliterans 238

solar dermatitis, legs 252solar keratosis 59

ears 124,127hands 170

solar papules, ears 124solar urticaria 36spastic foot drop 233spider angioma 46spider naevus 46splinter haemorrhages 207

traumatic 207,208spring catarrh (vernal conjunctivitis) 94, 95squamous cell carcinoma

ears 124,126, 127lips 70

staphylococcal infection, facial 38-39sternomastoid muscle, weak/wasted 88steroid acne 40Stevens-Johnson syndrome 37, 38

mucosal ulcers 84stomatitis, angular 69, 70, 82strabismus 24streptococcal infection

facial 38-39pharyngitis 87

striaeCushing's syndrome 223purple 11

striate leuconychia 173nails 210

Sturge-Weber syndrome 57stye 93subconjunctival haemorrhage 92, 97subcutaneous nodules

erythema nodosum 193legs 215

subgingival calculus 73subhyaloid haemorrhage 110submandibular gland, enlargement 68subungual fibroma 213subungual haematoma 208

267


INDEX

268 subungual hyperkeratosis 200, 201subungual onychomycosis, distal/lateral

199-200subungual pustules 252, 253sun choroiditis 119superior vena cava obstruction

chest 145eyes 1facial appearance 135,136nails 214thyroid gland malignancy 134tongue 83

supraclavicular fat deposits 11, 12supragingival calculus 73supraorbital ridges

Paget's disease 62thickened 4, 7

suprapatellar pouches 226suprascapular nerve, injury 139swan-neck deformity 158sycosis barbae 38sympathetic paresis, ptosis 23synacthen test, short 19synechiae, anterior/posterior 100syphilis

congenital 1eyes 1palatal perforation 87sabre tibia 226saddle nose 64-65

interstitial keratitis 99secondary 196

feet 252,253hands 196papular exanthem (chest) 150

tertiary, tongue lesions 86syphilitic chancre 70syringomyelia

spastic foot drop 233tongue 80

systemic lupus erythematosus (SLE)drug-induced 47, 48facial manifestations 46-47hands 173,194livido reticularis in 243nailfold infarcts 173, 243nails 210-211rash 47

systemic sclerosisfacial features 47-48hands 173,212lips 47mouth 3mucosal telangiectases 71nails 212neck involvement 139

Ttabes dorsalis 232

ptosis with frontalis overaction 24target lesions 37, 84

hands 169, 170tartar, dental 73,74taste

impairment 88loss 34

tattoo, coal-dust 63

T-cell lymphoma 195-196teeth 72-78

canines, drifting 74, 75loose 73malocclusion 8normal 72staining 72tartar 73,74well-preserved in elderly 74

telangiectasiachest 146facial 47,48hereditary haemorrhagic see hereditary

haemorrhagic telangiectasiamucosal 71

temporal (giant cell)arteritis 35, 63temporal artery

enlargement 63inferior, occlusion 111

tendon jerks, hypothyroidism 17Terry's nails 210testicles, inspection 156tetany, hypoparathyroidism 186tetracycline, staining of teeth 72thenar eminence

atrophy 181flattening 181, 182wasting 178

thoracic kyphosis, ankylosing spondylitis 139,142

thoracic scoliosis 130, 142, 143thoracoplasty, scar 143thoracotomy scar 144thromboangiitis obliterans (Buerger's disease)

238thrombocytopenia

palatal purpura 86, 87subconjunctival haemorrhage 97

thrombophlebitissegmental 239

thromboangiitis obliterans with 238superficial 235

migratory 235thrombosis see deep venous thrombosisthrush, oral 85-86thyroglossal cyst 132,133thyroid acropachy 15,187thyroid carcinoma, medullary 83thyroid gland

enlargement 132, 133examination 16malignancy 134toxic adenoma 133

thyrotoxic facies 16thyrotoxicosis 16thyrotrophin, deficiency 20tibia

Paget's disease 215,226sabre 226

tinea (ringworm)hands 171-172legs and feet 244nails 199

tinea capitis 41tinea corporis 42

lips 70tinea manuum 172

tinea unguium 200tinea versicolor 148

legs 244tobacco

staining of gums and teeth 72see also smoking

toesclubbing 251cyanosis 251digital arteritis 239gangrene 237,238,239infarction 229see also foot

tongue 78-86acromegaly 6, 7, 80black hairy 79carcinoma 86'caviar' 84cyanosis 80, 81

see also gums (gingivae)dry 79examination 78, 79global atrophy 80, 81gummatous nodule 86haemangioma 84infections 84,85-86lipodystrophy 6, 7normal 7,78-79,81pigmentation changes 82telangiectases 83ulcers 82,83,84,85, 193wasting 80, 81

bilateral 80unilateral 80

yellow hairy 79tonsils 87tophaceous urate deposits (tophi) 160

ears 165feet 231hands 160,161ulceration 231

toxic adenoma, thyroid 133toxic multinodular goitre 133toxoplasma choroidoretinitis 119toxoplasmosis, cervical lymphadenopathy

135trachea, deviation 136trachoma 95

'burnt out' 96trachoma follicles 95trachomatous pannus 95transferrin saturation 52transfusion haemosiderosis 51trauma

nails 208self-induced see self-induced injuries

Treacher Collins syndrome 66-67, 123-124trench mouth 77tricuspid incompetence 135tropical acne 40tropicamide 105Trousseau's sign 186tuberculous abscess, cold 135,155tuberculous adenitis

groins 155neck 134-135

tuberculous sinus 135


INDEX

tuberous sclerosis (epiloia) 51nails 213

tuberous xanthomata 50elbows 58hands 191knees 250

Turner's syndrome 131chest and breast 145hands 184

tylosisfeet 249hands 177

tympanic membrane 123atrophic scarred 128examination 127normal appearance 127perforation 127, 128

Uulceration/ulcers

aphthous see aphthous ulcerscornea 90,97-98diabetes see diabetes mellitus, foot ulcersdigital, systemic sclerosis 174foot see footgingival see gums (gingivae)legs 216,237,238Martorell's (infarctive) 237mucosal (oral) see oral mucosa, ulcersneuropathic, diabetes 217-218rodent 38self-biting 76tongue 82,83.84, 85,193trophic (perforating, pressure) 217-218venous stasis 219

ulcerative blepharitis 93ulcerative colitis

pyoderma gangrenosum associated 238tongue lesions 82, 83

ulcerative gingivitis, acute 76-77ulnar deviation, rheumatoid arthritis 158,159ulnar nerve

injury, claw hand 179in leprosy 181palsy 179. 180, 181

Ulrich's syndrome 132umbilical hernia 154umbilicus

bruise near 154-155inspection 154stretched, ascites 151

upper motor neuron muscular weakness,facial paralysis 31

urate, subcutaneous deposit 161urate tophus 160. 161, 165,231

see also gout; gouty arthritisurine

orange-red fluorescence 50pink 49porphyria diagnosis 50

urticariafacial 36

legs 248penicillin rash with 248

urticarial weals 248dermatitis herpetiformis 246

uvealtract 100-101inflammation 100-101

uveitis, chronic anterior 100-101'burnt out' 101

uvuladeviation 88position 88

Vvaricella (chicken pox) 44

chest appearance 147progressive 44

varicose veins 236, 237variegate porphyria 49. 195vascular disorders

facial features 57-58legs 234-243

vascular malformations, pulmonary 53vasculitic lesions, hands 194vasculitides 56

facial features 56hand signs 194

vasculitisallergic 56facial features 56granulomatous 56legs 239necrotizing

Henoch-Schonlein purpura 242legs 234, 242

palpable purpura with 242rheumatoid 165,230in Wegener's granulomatosis 55

vasospasm, Raynaud's phenomenon 174veins, varicosities, legs 236vena cava obstruction

inferior 152, 153superior see superior vena cava obstruction

venous dilatationabdominal 152,153retinal, diabetes 114,117

venous stasis ulcers 219verruca plantaris 254vesicles 47

dermatitis herpetiformis 245-246eczema herpeticum 89herpes simplex infection of lips 69see also blisters

vesiculobullous diseases, causes 43vibration sensation, loss 217Vincent's disease 76-77viral infections, tongue 84visual fields

defects, acromegaly 8testing 9

vitamin A 96deficiency 96

vitamin B12 deficiency 82

vitamin B complex, deficiency 69vitamin C deficiency (scurvy)

gingivitis 75glossitis 82legs 252

vitiligo 53, 54chest 150conditions associated 176hands 175-176, 176sites/distribution 176

von Recklinghausen's disease seeneurofibromatosis

Wwarts

feet 254lips 70plantar 254

wastingC6/C7 level 179generalized 177

face 66hands 177-178see also muscle wasting

water-drop test, koilonychia 203weals 47

see also urticarial wealswebbing of neck 131,132Weber-Christian disease, hands 193Wegener's granulomatosis 55

legs 240,242palate and pharynx 87

weight lossAddison's disease 18Crohn's disease 66Graves' disease 16

whiteheads 39whooping cough, subconjunctival

haemorrhage 97Wickham's striae 156,169-170Wilson's disease 213

Kayser-Fleischer ring 98wrist, septic arthritis 164wrist drop 182, 183

Xxanthelasma

eyelid 92face/eye signs 2, 50, 51familial hypercholesterolaemia 50

xanthomataeruptive, legs 250papular eruptive, legs 250tendinous 250tuberous see tuberous xanthomatatypes and causes 251

Yyellow-nail syndrome 208-209

Z-deformity, rheumatoid arthritis 158,159

269


Education

Atlas of clinical diagnosis 2nd ed (2003)