Abstract
Epidermolysis bullosa hereditaria letalis (Herlitz) rarely appears with all the clinical characteristics originally described as belonging to the syndrome. Besides the blistering of the skin and mucous membranes in the oral cavity, the case presented showed dystrophic nails, congenital localized skin defects with hypoplasia of underlying structures and a rare but characteristic malformation of the foot of the affected extremity. No scar formation occurred before death at the age of 6 months. Histological examination of the blisters showed separation between the basement membrane and the cell membrane of the basal cells. In areas of skin defects, normal appearing hair follicles and sweat glands were seen. The relation of the syndrome to Bart's syndrome is discussed.
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