Epidermolysis bullosa dystrophica with urinary tract involvement.
A case of epidermolysis bullosa dystrophica ( EBD ), neonatally corrected atresia of the pylorus and early infantile development of urinary tract manifestations is reported. Owing to misinterpretation of radiological findings, instrumental treatment of the urethra was employed. It resulted in complete and permanent obliteration of the lumen. While the skin disorder has remained slight to moderate in severity, recurrent keratitis has resulted in impaired vision.
D004820:Epidermolysis Bullosa / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011708:Pylorus / Q000002:abnormalities; D014522:Urethral Diseases / Q000473:pathology; D001745:Urinary Bladder Diseases / Q000473:pathology; D014570:Urologic Diseases / Q000473:pathology*