Epidermolysis bullosa junctionalis associated with urinary bladder exstrophy: a case report.
We report the second infant of nonconsanguineous parents with epidermolysis bullosa junctionalis associated with urinary bladder exstrophy, epispadias, anteriorized anus, and bilateral inguinal hernias. The family history also included the death of a maternal cousin due to epidermolysis bullosa. Our diagnosis was based on electron microscopy and immunofluorescence evidence. This patient is reported because of the rarity of this constellation of findings.
Moretti
G
G
Department of Dermatology, University of Messina, Italy.
Mazzaglia
E
E
D'Anieri
A
A
Merlino
V
V
Magaudda
L
L
Mondello
M R
MR
Santoro
G
G
Vaccaro
M
M
Albanese
A
A
D000015:Abnormalities, Multiple; D001003:Anal Canal / Q000002:abnormalities; D001746:Bladder Exstrophy / Q000150:complications*; D016109:Epidermolysis Bullosa, Junctional / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D004842:Epispadias / Q000150:complications; D006552:Hernia, Inguinal / Q000151:congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012867:Skin / Q000648:ultrastructure