PARTIAL ANODONTIA IN INCONTINENTIA PIGMENTI

G. S. HOGGINS, B.D.S.(B'ham.), F.D.S.R.C.S.(Eng.) Children's Hospital and Selly Oak Hospital, Birmingham

INCONTINENTIA PIGMENTI (Block Sulzberger Syndrome) is an extremely rare condition. Nevertheless, a large number of papers have been published on the subject by dermatologists commencing with a single case described by Block (1925) demonstrating to the Swiss Dermatological Society under the title of Incontinentia Pigmenti, to be followed in I928 by a further description of the same case by Sulzberger. As a direct result of these papers, the condition gained the title of Block Sulzberger Syndrome.

Haber, in a full paper on the subject in I952, pointed out that as incontinence of the skin was only a part of the condition, it would be far better termed Block Sulzberger Syndrome in future.

Much of the earlier descriptive work has failed to describe the dental defects, perhaps because the patients were all too young to attract attention in this respect at the time of examination, but Vera Oldfeldt (1957) mentions dental anomalies, e.g. partial anodontia, delayed eruption, hypoplasia, spaced, conical, and malformed teeth. It is only recently however, that a full description of the dental detects associated with the syndrome has been made in an excellent work by Hitchin and Hall (1964).

According to Oldfeldt (I957), incontinentia pigmenti should be regarded as an ectodermal and mesodermal polydysplasia consisting of bullous and vesincular cutaneous lesions occurring in the neonatal period and infancy, gradually changing to verrucous and eventually to pigmented skin lesions that regress with the passing years.

From the histological point of view, in all conditions where there is pigmentary incontinence, when there is liquefaction necrosis of the basal layer of the skin, the cells cannot hold their pigment and consequently the melanin escapes into the corium to be taken up by chromatophores leading to tattooing of the upper cutis.

CLINICAL FEATURES

The skin. The condition starts as a vesiculo-bullous eruption in the first four months, passes through a warty pigmented stage during the first year, and terminates as a peculiar chocolate brown hyperpigmentation arranged in whorls and streaks over large areas of the extremities and torso. This stage may start in infancy and persist into adult life. Thus all stages may be present in the first six months of life.

The Hair . If affected, the scalp may show alopecia areata and hyperpig- mentation leading to a depressed cicatricial scar devoid of hair follicles and called the coup de sabre.

The Eyes. Squint, and blindness from optic nerve atrophy have been seen. Retinal detachment also occurs. About 2 5 to 3o per cent. of cases show some ophthalmological abnormality.

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I I 2 B R I T I S H J O U R N A L OF ORAL SURGERY

T h e Jaws a n d T e e t h . As might be expected with a condition showing ectodermal dysplasia, the dental defects, which occur in about 50 per cent. of cases, include partial anodonfia, hypoplasia, abnormalities in crown formation, and delayed eruption.

T h e C e n t r a l N e r v o u s S y s t e m . Many children have concomitant neuro- logical symptoms such as convulsions, mental retardation, or spasticity.

T h e B lood . Investigations confirm eosinophilia and a low E.S.R.

Ae t io logy . With regard to the cause of the condition according to Haber , it may be due to dermatotrophic virus infection of the mother during pregnancy causing cardiac and dental abnormality, mental defect, cataract, glaucoma and microphthalmia. Evidence points strongly, however, to it being an hereditary condition manifesting almost totally in the female offsprings. Oldfeldt describes only four males affected in 80 cases. Cockayne (I933) classified it as a dominant inborn anomaly.

CASE R E P O R T

J. B., a female child aged 4 years, was referred to the Birmingham Children's Hospital by her G.P. in July I963 because he had noted failure of some primary teeth to erupt and delay with those she had erupted. The relationship to diagnosed Incontin- entia Pigmenti was questioned.

She was born at full term by normal delivery, fourth gravida on 29.7.59. The birth weight was 8 lb. ½ oz. No ante-natal problems were reported, and no unusual drugs were taken during that period. No immediate post-natal trouble arose until a rash developed at 14 days. This became vesicular over the scalp, upper and lower limbs. She was admitted to hospital on this account.

After one week, the vesicles formed a thick crust and became warty. Later, the vesicles, and some of the warts disappeared leaving behind pigmented patches.

Blood investigations and X-rays were performed

24.8.59

I. Blood--Hb. = 93% W.B.C. = 38,000 per c. ram. Polymorphs = 28% Eosinophils = 41% Lymphocytes = 26% Monocytes = 5%

2. X-ray chest--NAD 3. Swab from vesicle--NAD 4. Throat swab--NAD 5. X-ray spine--showed a soft tissue swelling

over the Lumbar ISt spine, but no change in the bones or spaces

She showed normal social and intellectual development and the milestones of pro- gress have been normal for height, and weight, but eruption of the primary dentition was somewhat delayed.

F a mi ly His tory. She is the fourth sibling of normal healthy parents with no consanguinity. The mother had pulmonary tuberculosis 13 years ago resolved after two

PARTIAL ANODONTIA IN INCONTINENTIA PIGMENTI 113

years. There is no previous example of this condition or partial anodontia in the family. Her two sisters, aged I8 and 14 years, and her brother aged 22 years are not affected.

On Examina t ion . A well-developed girl of average weight and height, rather quiet, but normally intelligent. She showed plentiful areas of brown pigmentation mainly on the trunk and thighs (Fig. I) and there was evidence of crusting in non- pigmented skin lesions affecting the left lower leg (Fig. 2). General examination revealed no other abnormalities apart from the oral ones now to be described.

FIG. I FIG. 2

FIG. I--Areas of brown pigmentation distributed on trunk and thighs. FIG. 2--Showing evidence of crusting in non-pigmented skin lesions--left leg.

O r a l Examina t ion . When first seen at four years, the following primary teeth were present

E C A / A C E E CB / ABC

No dental treatment had been received. Several of the teeth showed hypoplasia with secondary carious attack. The gingival

condition and jaw development seemed normal.

X - R a y Examina t i on , which proved most difficult, confirmed the absence of the other primary teeth not charted above, and showed developing permanent teeth

I / I 3 6 (Figs. 3n , B, CandD). 6 3 1 / 1 3

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A / A More recent examination at six and a half years showed exfoliation o f B / ~ A to have

occurred, and eruption of / in process these permanent incisors show abnormal I / I

crown formation and each has an accessory cusp (Fig. 4).

A B

FIG. 3A Developing permanent dentition in upper iaw.

FIG. 3 B Developing permanent dentition in lower jaw.

c D

FIGS. 3 C and D Lateral view of jaws demonstrating partial anodontia and

developing permanent teeth.

P A T R I A L A N O D O N T I A IN I N C O N T I N E N T I A P I G M E N T I I I 5

FIG. 4 Showing accessory cusp formation and abnormal crown formation in permanent lower incisor teeth.

D I S C U S S I O N

This well-established case of incontinentia pigmenti, with no relevant family history of the condition or its dental defects, has shown the characteristic dental changes of partial anodontia, abnormalities of crown formation, and delayed eruption described by Gorlin and Anderson (I96O). Apart from the well-demon- strated skin lesions, early vesiculation of the scalp, and a soft-tissue swelling over the first lumbar spine which proved insignificant, all other stigmata of the syndrome have been escaped.

ACKNOWLEDGEMENTS

1 wish to thank Dr. Wilkinson, who referred the case, and Mr. J. Hirt for the clinical photographs.

REFERENCES

BLOCK, B. (1925). Schweiz. reed. Wschr. 7, 404. COCKAYNE, E. A. (I933). Inherited Abnormalities of the skin and its Appendages, p. 326.

London: Oxford University Press. GORLIN, R. J. & ANDERSON, J. A. (I96O). J. Pediat. 57, 78. HABER, H. (I952). Brit. Derm. 64, I29. HITCmN A. D. & HALL D. C. (I964). Brit. dent. J. H6, 6. OLDFELDT, V. (I957). J. Pediat. 54, 446. SULZBERGER, M. B. (I928). Arch. Derm. Syph. Berl. I54, I9.