Epidermolysis bullosa in association with aplasia cutis congenita and pyloric atresia.
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 the age of 43 hours. Post-mortem examination showed the presence of pyloric atresia and electron microscopy of skin biopsies showed epidermolysis bullosa simplex. Examination of the placenta revealed a unique abnormality of the membranes, indicating the existence of two sacs. This case and the previously reported cases, which are reviewed, suggest an autosomal recessive inheritance. Serum alphafetoprotein estimation, ultrasonography and fetoscopy with skin biopsy are suggested as a means of pre-natal diagnosis in future pregnancies.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D004820:Epidermolysis Bullosa / Q000151:congenital* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011708:Pylorus / Q000002:abnormalities*; D012867:Skin / Q000473:pathology; D012868:Skin Abnormalities