Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease.
The occasional concurrence of junctional epidermolysis bullosa and pyloric atresia has been documented in the literature. Several infants reported as having this combined disorder were also noted to have significant genitourinary disease. We treated a 4 1/2-year-old boy with mild cutaneous manifestations of junctional epidermolysis bullosa, corrected pyloric atresia, and significant renal disease secondary to recurrent obstruction of the ureterovesical junction.
D004820:Epidermolysis Bullosa / Q000150:complications / Q000151:congenital* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011184:Postoperative Period; D011708:Pylorus / Q000002:abnormalities*; D011859:Radiography; D012867:Skin / Q000473:pathology; D014513:Ureter / Q000000981:diagnostic imaging / Q000473:pathology; D014517:Ureteral Obstruction / Q000209:etiology*; D001743:Urinary Bladder / Q000000981:diagnostic imaging / Q000473:pathology