Images in Clinical Practice

Indian Pediatrics 1999;36: 1058-1059

Epidermolysis Bullosa

A nine-month-old female child, only issue of a non-consanguineous marriage presented with blisters and erosions all over the body and dystrophic nails, with paronychia. At birth she had two blisters at the tips of right thumb and index finger. In a fortnight they became generalized including nostrils, oral mucosa and genitalia, but with relative sparing of palms and soles. Blisters ruptured spontaneously and healed without scarring or milia formation. Blisters formation and healing went on repeatedly. Since 4 months of age she started scratching the blisters which turned on to ulcerative plaques. Five months onward nails became dystrophic and shed from the nailbeds only to be replaced by dystrophic nails. During past three months she had repeated febrile episodes with respiratory tract infections and was treated with antibiotics and blood transfusion. On examination she was pale. There were blisters and raw ulcerative leisons  all over the body with relative sparing of palms and soles. There were crusts around her nostrils and oral cavity (Fig. 1).

Fig. 1. Blisters and raw ulcerative lesions all over the body and crusts around her nostrils and oral cavity.

Her nails were dystrophic with bulbous swelling of nail folds (Fig. 2). Rest of the systemic examination was normal. Her hemoglobin was 6.4 g/dl., total leukocyte count was 14,000/mm³ with 74% neutrophils. Serum albumin level was 2.4 g/dl and globulin level was 4.2 g/dl. She had normal immunoglobulin level. Histopathological exa-mination revealed blister formation subepi-dermally above the PAS positive basement membrane on light microscopic examination with PAS stain indicating junctional epidermolysis Bullosa (EB). The child had blood transfusion, oral iron and topical antibio-tics. She came for follow up after 2 months. Oral costicosteroid was started because of increased severity of blistering, but the child failed to show any improvement.

Fig 2.
Dystrophic nails bulbous swelling of nail folds.

Very early onset since birth, gradual generalized skin involvement including mucous membrane of mouth and genitalia, nostril, appearence of crusting lesions, involvement of 

nailfolds and shedding of nails, healing without scar or milia formation, downhill course requiring blood transfusion and systemic corticosteroid suggested the clinical diagnosis of Herlitz type of EB. The line of clevage in EB simplex type is intraepidermal. The skin changes are milder and subside with passage of time. In the non-lethal junctional EB (Non-Hertlitz type) the inheritence and ultrastructual changes are identical to those of lethal form but patients often survive to adulthood with gradual lessening of the severity of the disease with age. Dystrophic EB is characterized by scarring and milia. Light microscopy reveals bulla formation within upper dermis. A definitive subclassifi-cation of EB requires facilities for electron microscopy or antigen mapping. However, these were not available to us.

Sutapa Ganguly,
Sujit Sengupta,
Department of Pediatric Medicine
and Dermatology,
I.P.G.M.E.R. and S.S.K.M. Hospital,
Calcutta 700 020, India