[Involvement of the urinary tract in a syndrome of congenital epidermolysis bullosa and atresia of the pylorus].
Epidermolysis bullosa associated with pyloric atresia is a rare autosomal recessive condition, usually fatal in the first few months of life. Since 1983 urinary tract disease is known to be another manifestation of this syndrome which becomes the main problem in children surviving beyond infancy. The case of a 2 1/2 year-old boy with mild cutaneous manifestations of junctional epidermolysis bullosa, corrected pyloric atresia and renal disease is reported. Hematuria, dysuria, obstruction of the uretero-vesical junction and worsening hydronephrosis led to bilateral ureterostomy (ureteral reimplantation was not attempted because the thickness of the bladder wall and the extensive ureteral fibrosis).
Rosenberg
D
D
Service de Chirurgie Pédiatrique, Hôpital Edouard-Herriot, Lyon.
Dodat
H
H
Cottin
X
X
Cambazard
F
F
Chappuis
J P
JP
Salle
B
B
D002675:Child, Preschool; D004820:Epidermolysis Bullosa / Q000209:etiology*; D006801:Humans; D008297:Male; D011379:Prognosis; D011708:Pylorus / Q000002:abnormalities*; D013577:Syndrome; D014519:Ureterostomy; D014570:Urologic Diseases / Q000209:etiology* / Q000601:surgery
Atteinte du tractus urinaire au cours du syndrome épidermolyse bulleuse congénitale-atrésie du pylore.