A case of pyloric atresia associated with junctional epidermolysis bullosa.

We describe an infant with congenital pyloric atresia associated with junctional epidermolysis bullosa, which is now recognized as an autosomal recessive syndrome. Laparotomy revealed a membrane in the pyloric antrum. Clinical manifestations included intractable diarrhoea and malnutrition due to protein-losing gastroenteropathy. A satisfactory nutritional state could not be obtained during the clinical course and the child died.