title: Epidermolysis bullosa associated with congenital localized absence of skin, fetal abdominal mass, and pyloric atresia.
abstract: A 2320-g male infant was delivered at 35 weeks gestation to a mother who had polyhydramnios. He had a combination of congenital localized absence of skin, unilateral hydronephrosis, and hydroureter due to ureterovesical obstruction, and nonbilious vomiting due to pyloric atresia. Blistering of the skin developed after birth. Epidermolysis bullosa simplex was confirmed by electron microscopy of a skin biopsy specimen. We describe this patient, who had three unusual manifestations of epidermolysis bullosa.
authors.affiliation: Department of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, USA.
authors.forename: S
authors.initials: S
authors.lastname: Puvabanditsin
authors.forename: E
authors.initials: E
authors.lastname: Garrow
authors.forename: R
authors.initials: R
authors.lastname: Samransamraujkit
authors.forename: L A
authors.initials: LA
authors.lastname: Lopez
authors.forename: W C
authors.initials: WC
authors.lastname: Lambert
mesh_terms: D000015:Abnormalities, Multiple; D016107:Epidermolysis Bullosa Acquisita / Q000150:complications* / Q000473:pathology; D017809:Fatal Outcome; D005315:Fetal Diseases; D006801:Humans; D006869:Hydronephrosis / Q000150:complications* / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000150:complications*; D008297:Male; D011708:Pylorus / Q000002:abnormalities*; D012868:Skin Abnormalities / Q000150:complications*; D014057:Tomography, X-Ray Computed; D014517:Ureteral Obstruction / Q000150:complications*