Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa?

A newborn girl is described with a lethal junctional epidermolysis bullosa (Herlitz form) (JEB) associated with a congenital localized absence of skin, and a pyloric atresia (PA). The post-mortem examination of the digestive tract showed a widespread cleavage between the epithelium and the chorion. Immunohistological and electron microscopical examination showed a cleavage occurring through the lamina lucida of the digestive basement membrane, as for the skin blisters. Despite the lethal character of this form of JEB, the BM 600 glycoprotein was normally recognized at the dermo-epidermal junction by the monoclonal antibody GB3. This rare association of lethal JEB-PA-localized absence of skin, with a quite unusual GB3 positive immunophenotype could correspond to a new variant of JEB.