title: Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings.
abstract: Congenital localized absence of the skin has been observed in various subsets of inherited epidermolysis bullosa (EB). Pyloric atresia is a rare disorder that has been seen in association with EB. Ureterovesical junction obstruction is a condition unique to the association between pyloric atresia and EB. The authors describe 2 premature male siblings with pyloric atresia, congenital localized absence of the skin, urinary obstruction, and EB at birth. Electron microscopic study of the biopsy specimen from the first sibling revealed characteristic findings of EB simplex. However, prenatal diagnosis of the next sibling was made by integrin B4 mutations and the electron microscopic study of the biopsy specimen after delivery confirmed junctional EB (JEB). These cases emphasize this unusual combination of defects and limitations of electron microscopy.
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: D U
authors.initials: DU
authors.lastname: Kim
authors.forename: P
authors.initials: P
authors.lastname: Tirakitsoontorn
authors.forename: J
authors.initials: J
authors.lastname: Luan
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001707:Biopsy, Needle; D002585:Cesarean Section; D016109:Epidermolysis Bullosa, Junctional / Q000175:diagnosis* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D008854:Microscopy, Electron; D011247:Pregnancy; D011708:Pylorus / Q000002:abnormalities*; D018570:Risk Assessment; D012868:Skin Abnormalities / Q000175:diagnosis*