Severe Infantile Epidermolysis Bullosa Simplex

Abstract

We encountered eight patients with epidermolysis bullosa (EB) simplex of the Dowling-Meara type, who presented in infancy with severe blistering and were originally clinically thought to have recessive dystrophic EB. One infant died in the neonatal period, and the others have had reduced blistering with advancing age. However, in two of the three older patients, the development of severe disabling hyperkeratosis of the palms and soles has been a prominent feature. The correct diagnosis of EB simplex was initially not made in five patients, because, on routine histologic examination, the blister was apparently subepidermal. Electron microscopy confirmed the correct diagnosis of EB simplex by demonstration of basal cell cytolysis. There was clumping of tonofilaments in seven patients. Immunofluorescence demonstrated a cleft above the basal layer in three cases. The findings of severe extensive blistering at birth that improves with age, milia formation, acral distribution with herpetiform groups of blisters in older children, intraoral lesions, absence of scarring, and intraepidermal clefting due to basal cell cytolysis and clumping of tonofilaments within these basal cells as seen on electron microscopic examination present a subtype of EB simplex similar to that described by Dowling and Meara. This has been recognized in the European but not in the American literature and is probably more frequent than has been previously reported.