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[Pathogenesis of atresia of the pylorus in patients with epidermolysis bullosa].

A new case of pyloric atresia associated with epidermolysis bullosa was observed. To our knowledge seventeen other cases of this condition have been previously reported, five of these also presented aplasia cutis congenita. Although there is no clear agreement as to which type of epidermolysis is associated, junctional bullous epidermatosis is the most commonly reported form. This is unlikely to be a chance association, since both are extremely rare and autosomal recessive hereditary conditions. Some authors have proposed a pleiotropic effect of a single gene or autosomal recessive, with close gene linkage, inheritance of these two conditions. After careful consideration of the various pathogenetic hypotheses, we conclude that epidermolysis, even when non in the scarring form, may be responsible for pyloric atresia.

Ectodermal Dysplasia↗