Congenital pyloric atresia and epidermolysis bullosa letalis in premature siblings.

Epidermolysis bullosa letalis has been associated with congenital pyloric atresia in an autosomal recessive syndrome. This report documents the second occurrence in premature siblings. Our review indicates that it is a lethal condition with death due to the septic complications of epidermolysis bullosa letalis. Surgical management of pyloric atresia should be withheld until the severity of the epidermolysis is known. Skin biopsy to document the type of epidermolysis bullosa is imperative as only the letalis form is documented to be lethal. The risk for subsequent siblings is 25% and parents should undergo genetic counseling. Prenatal diagnosis of epidermolysis bullosa letalis can be made by fetoscopic skin biopsy. We suggest nonoperative management of pyloric atresia unless the skin disease is responsive to treatment.