Epidermolysis bullosa--pyloric atresia. An autosomal recessive syndrome.
A sister and brother each had epidermolysis bullosa and pyloric atresia at birth. Both died in early infancy of complications related to epidermolysis bullosa. Electron microscopic studies of skin biopsy specimens disclosed findings consistent with a diagnosis of epidermolysis bullosa letalis. The existence of epidermolysis bullosa-pyloric atresia syndrome as a distinct clinical entity with autosomal recessive inheritance is supported by the findings in these patients.
D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011708:Pylorus / Q000002:abnormalities*; D012867:Skin / Q000648:ultrastructure; D013577:Syndrome