EPIDERMOLYSIS BULLOSA IN ASSOCIATION WITH APLASIA CUTIS CONGENITA AND PYLORIC ATRESIA

Abstract

A female infant born to a mother who had an elevated serum .alpha.-fetoprotein during early pregnancy presented a combination of epidermolysis bullosa and aplasia cutis congenita. She developed evidence of upper gastrointestinal obstruction and died at 43 h. Post-mortem examination showed the presence of pyloric atresia and EM of skin biopsies showed epidermolysis bullosa simplex. Examination of the placenta revealed a unique abnormality of the membranes, indicating the existence of 2 sacs. This case and previously reported cases, which are reviewed, suggest an autosomal recessive inheritance. Serum .alpha.-fetoprotein estimation, ultrasonography and fetoscopy with skin biopsy are suggested as a means of pre-natal diagnosis in future pregnancies.