576

Proc. roy. Soc. Med. Volume 70 August 1977

Meeting 16 December 1976

Cases Epidermolysis Bullosa with Unusual Features: ? Inversa Type C M Ridley FRCP (Elizabeth Garrett Anderson Hospital, London N WI) E B, woman aged 55 She was covered with 'quite large blood blisters' at birth and has had scattered blisters from time to time often, but not always, as a reaction to friction or injury. Large blisters appear on the feet particularly in summer, the other part now mainly affected being the genitocrural area (Fig 1). There was no scarring or atrophy. The toenails were lost at the age of 5 but the finger nails are essentially normal. The second dentition never erupted properly and the teeth were removed at age 14. The hair was always thin and has been particularly so at the vertex since the age of about 35.

Fig I Large blisters in the genitocrural area

In the past she has had ulceration in the mouth and eyes, the latter from infancy until eight years ago. The eyes now show corneal nebult and abrasions. Histological examination of a bulla shows a subepidermal lesion with some inflammatory changes (Fig 2). The family history is negative and there is unlikely to have been any consanguinity. Her general health is essentially good, apart from recurrent cellulitis in the legs, probably related to venous thromboses and controlled by long term penicillin. Discussion That she has epidermolysis bullosa seems not to be in doubt. The unusual feature is also the main difficulty in management; the presence for twentyone years of large painless inexorably extending

Fig 2 Histological examination of a bulla showing a subepidermal lesion and some inflammatory changes

Section of Dermatology

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Fig 3 Perianal ulcers in: c, 1976-detail

A, 1966; B, 1976;

perianal ulcers. They are smooth and shallow with cedematous edges and did not arise from bullxe although bullae often appear at the edges (Fig 3A, B, c). In recent years the ulceration has given rise to anal stenosis and she has to have regular anal dilatations. An unsuccessful attempt was made two years after their appearance to excise and graft the ulcers. Short courses of oral steroids, corticotrophin, vitamin E and zinc sulphate have been ineffective. Crohn's disease as a cause of the ulceration would seem to be excluded by the long duration which has been unaccompanied by any bowel symptoms, a normal barium enema, and nonspecific histological changes in several exami-

nations of anal tags, pieces of polypoid mucosa and the ulcer edge. Perianal ulceration has, however, been found in epidermolysis bullosa of the inversa type, described by Gedde-Dahl (1971a, b). In his cases scarring and atrophy, absent in this patient, were prominent but as here, genitocrural blistering, keratitis and enamel hypoplasia were noted Two further cases thought to be of inversa type have been reported by Hashimoto et al. ( 976). It is, therefore, suggested that she falls into the category of epidermolysis bullosa inversa, inherited as an autosomal recessive character.

Addendum: The notes and photographs of this patient were shown to and discussed with Dr Gedde-Dahl, who accepts her as a case of epidermolysis bullosa inversa. This is apparently the first case to be defined in this country. REFERENCES Gedde Dahl T (i97i a) In: Birth Defects: Original Article Series. Part 7, Skin, Hair and Nails. Ed. D Bergsma. Williams and Wilkins Baltimore; p 107 (1971 b) Epidermolysis Bullosa: a Clinical, Genetic and Epidemiological Study. Johns Hopkins Press, Baitimore & London Hlashimoto I, Anton-Lamnprecht I & Hofhauer M (1976) Der Hautarzt 27, 532

Epidermolysis bullosa with unusual features: inversa type.

576 Proc. roy. Soc. Med. Volume 70 August 1977 Meeting 16 December 1976 Cases Epidermolysis Bullosa with Unusual Features: ? Inversa Type C M Ridle...
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