International Orthopaedics (SICOT) (1985) 9:259-264 International Orthopaedics

© Springer Verlag 1985

Macrodactyly of the hand and foot

K. K u m a r l, D. K u m a r 2, W. M. G a d e g o n e 1, and N. K. Kapah t i a 1

Department of Orthopaedics, Mahatma Gandhi Institute of Medical Sciences, Sevagram-Wardha-Maharashtra, India 2 Queen Mary's Hospital, Sidcup, Kent, England

Summary. Five patients with macrodactyly are de- scribed. The foot was affected in 3 of them and the hand in 2. Two patients were operated on and the histological features are described. The literature is fully reviewed and the aetiology is discussed.

R6sum6. Description de cinq sujets porteurs d'une macrodactylie. Elle atteignait tro& fois le pied et deux fois la main. Deux malades furent op&& et les constatations histologiques sont pr~sentbes. La littbrature a btb revue de fa¢on exhaustive. L'btiolo- gie est discut~e.

Key words: Macrodactyly, Fingers, Toes

Local gigantism o f the fingers or toes (macrodac- tyly) is u n c o m m o n and most reports are o f single cases o f on ly small series. Most sources indicate that mac rodac ty ly affects the hand more of ten than the foot. Barsky [3] r epor ted a large n u m b e r of .cases o f congeni ta l mac rodac ty ly o f the hand with a review of the l i terature o f the past 140 ye- ars. Since then, a few more reports o f macrodac- tyly o f the hand have been publ ished [2, 7, I0, 15, 18, 19, 23, 26, 27, 28]. In 1925 Feriz [11] r epor t ed a large series o f cases o f mac rodac ty ly of the foot. A few more cases were added [2, 8, 9, 12, 19, 22, 28, 29]. No repor ts o f mac rodac ty ly o f the foot dur ing the past 5 or 6 years could be found.

The present pape r describes 5 cases (2 affect- ing the hands and 3 affect ing the feet) seen by the authors dur ing the last 5 years.

Materials and methods

All 5 patients with macrodactyly of the hand or foot were male and between 3~A and 16 years of age. The foot was affected in

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3 patients and the hand in 2. Two came to the hospital special- ly for the treatment af the deformity, and the other 3 cases were recognised by chance when they had come to the hospital as attendants of other patients. A detailed history and clinical examination was carried out in all cases, and radiographs were taken. Specimens obtained from operation were examined microscopically.

There was no family history of a similar condition in any of the patients and none had features suggestive of neurofi- bromatosis, haemangioma, lymphangiorna, hamartoma or any other congenital deformity elsewhere in the body. The defor- mity, which was noticed by the parents of all the patients soon after birth, was progressive. The patients who were admitted for operation seemed only partially satisfied. One patient who had macrodactyly of the hand underwent amputation of the enlarged finger, whereas one patient with macrodactyly of the foot underwent several operations, including staged defatting with subsequent skin necrosis, and delayed staged defatting with subsequent skin necrosis and delayed healing of the wound with infection.

The clinical and other features are summarised in Table 1, and illustrative clinical and histological photographs with ex- amples of radiographs are shown in Figs. 1-5.

Histology Specimens were p r epa red f rom the amputa t ed finger and the excised f ibrofa t ty tissue o f the foot. In the f inger all the elements f rom skin to bone were hyper t rophied . The med ian nerve in the pa lm was very much th ickened and the digital b ranches were as thick as the sciatic nerve. Nerve bundles were no rma l and there was no evidence suggesting neurof ibromatos is . The skin showed th ickening with dermal fibrosis and f lat tening of rete pegs as r epor ted by Tuli et al. [21]. The bone showed marked per iosteal th ickening and fibrosis. The t rabeculi were thin and poor ly calcified. In- creased f ibroblast ic activity near per ios teum as previous ly repor ted [18] could not been seen. F ibrofa t ty tissue ob ta ined f rom the foot showed tissue resembling the subcutaneous tissue o f an adul t [3]. It consis ted o f large and small lobules o f ad ipose tissue separa ted by f ibrous septa o f vari- able thickness.

260 K. Kumar et al.: Macrodactyly of the hand and foot

Fig. 1. a Clinical photograph showing involvement of all the 5 toes with swelling of the plantar aspect of the foot; b Photograph of the same foot showing dorsal curling of the toes; c Histology of the excised subcutaneous fat showing an adult type of fat (x !00)

Fig. 2. Anteroposterior and oblique radiographs of a patient with pedal macrodactyly

K. Kumar et al. : Macrodactyly of the hand and foot 261

Fig. 3. a Clinical photograph of a hand with macrod- actyly; b The same patient showing thickening in the palm; c Radiograph of the index and middle fingers showing bonyenlargement; d Clinical photograph af- ter excision of the middle ray. Note that the index finger now appears bigger compared with the other fingers; e Histology of the median nerve of the ex- cised finger showing hypertrophy of the nerve bun- dles ( x 100)

262 K. Kumar et al.: Macrodactyly of the hand and foot

Fig. 4. Clinical photograph of pedal macrodactyly with in- volvement of the hallux and 2rid toe

Discussion

The aetiology of macrodactyly is not known. Her- edity does not appear to play any role [11, 16, 26]. None of our patients had a positive family histo- ry. Barsky [3] found normal chromosomal pat- terns, whereas abnormal patterns in association with congenital asymmetry have also been report- ed. E1-Shami [10] quotes Gagnon et al. who attri- bute the abnormality to Trisomy-18 and translo- cation.

Various suggestions to explain the pathogene- sis of local gigantism have been put forward. Inglis [12] suggested three probable causes: (a) abnormality of nerve supply; (b) abnormality of blood supply and (c) abnormality of hormonal control. The concept was hypothetical and lacked supporting evidence.

Swanson [25] has described two types. In the first, all elements of the digit (i. e. bone, tendon

Fig. 5. Clinical photograph of hand with macrodactyly affect- ing the index and middle fingers

and neurovascular bundles) are enlarged propor- tionately. In the second type excess fibrolym- phomatous and lymphatic tissue is present along with neurofibromata, lymphangiomata or hae- mangiomata. Macrodactyly which arises in the distribution of a nerve is an example of the sec- ond type. It may occur with or without local nerve tumours and is seen in the distribution of the me- dian nerve in the hand and the medial plantar nerve in the foot. Both cases affecting the hand in the present series are of this type.

Barsky [3] has also defined two clinical types of true macrodactyly. The most common is static and is present from birth but increases in propor- tionate growth with other digits. The second is progressive which increases in size at a much fas- ter rate than can be attributed to the rate of nor- mal growth. This group, where macrodactyly is

Table 1.

S No Name Age Sex Site Digit Operation/ Photograph involved histopathology

1 SN 3V2 years Male Foot All 5 toes Defating Fig. la,b (Fig. lc)

2 KU 9 years Male Foot 2, 3, 4, toes - Fig. 2 3 LN 12 years Male Hand Index and Excision of Fig. 3a, b, c, d

middle fingers middle ray (Fig. 3e) 4 AP 14 years Male Foot Hallux and 2nd toe - Fig. 4 5 SE 16 years Male Hand Index and - Fig. 5

middle finger

K. Kumar et al.: Macrodactyly of the hand and foot

predominantly due to excessive fibrofatty tissue, is very rare. Only 7 cases had been reported in the literature until Dennyson et al. [9] added another 7 in 1977. All 3 cases of macrodactyly affecting the toe in the present paper appear to belong to this group.

It can be said that the two types of macrodac- tyly which have just been described are basically caused by two aetiological factors. One is due to neurofibromatosis [1, 17, 20] where neurofibroma- ta in a periosteal nerve cause bony destruction and regeneration [5]. While proposing a hormonal theory, Inglis [12] suggested that the enlargement was due to neurointrinsic factors associated with neurofibromata acting locally as the basic cause.

The second concept is of lymphomatous de- generation, which is commonly seen in the foot. Feriz [11] coined the term "macrodystrophia lym- phometosa progressiva" for these lesions.

The fingers affected in both types are mainly preaxial. Moore [20] suggested autonomic dys- function as the basic cause. This idea appears to be gaining in popularity [9, 26].

The male preponderance has been reported previously [3, 13] and all the patients in this series were male. Macrodactyly is often associated with lateral deviation of the finger [25] and both our patients with involvement of the hand showed this. In the distal type of localised gigantism, par- tial or total hypertrophy of the digit may occur. Examples of partial hypertrophy with enlarge- ment limited to the distal part have been reported [27]. Macrodactyly is commonly seen in fingers on the preaxial side of the hand. Some combination of thumb, index or middle fingers is usual [3, 6, 28]. Involvement of postaxial fingers [7] and of the little toe [2] is extremely rare. Bilateral macrodac- tyly either of the hand [7] or of the foot is also rarely seen. Macrodactyly of the foot usually shows dorsal curling of the toes due to excessive fibrofatty tissue on their plantar surface. Hyper- trophy of the soft tissue of the dorsum of the foot is again uncommon [27].

Enlargement of the digit is the main radiogra- phic feature, but associated involvement of meta- carpal or metatarsal may or may not occur. Some reports [3, 2l, 28] state that they are not involved whereas others [26, 27] found their enlargement uncommon. In the hypertrophic type, which is commonly seen in the hand, a metacarpal may overgrow [14]. Enlargement of a metacarpal in macrosyndactyly has also been reported [19].

Hypoplasia of a metacarpal [7] is extremely rare. None of our cases showed involvement of a

263

metacarpal or metatarsal bone. Early maturation of bones has been reported [4, 9, 101 but was not seen in the present series.

The static type of macrodactyly with propor- tionate growth [3] may not require any treatment except for cosmetic reasons. "Nerve-territory" macrodactyly may show cessation of growth if a digital nerve is sectioned [17]. When a finger is de- viated as well as enlarged, then osteotomy of the phalanx or epiphysiodesis may be indicated. Shortening of a digit by partial amputation or ex- cision of a phalanx or by other plastic procedures has been described [27]. Amputation should be the last resort and it gives no guarantee against re- growth.

Defatting plastic procedures for the foot are often complicated by the necrosis of the skin and delayed wound healing as occurred in our case.

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