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Epidermolysis Bullosa Junctionalis Associated with Urinary Bladder Exstrophy: A Case Report
Author(s) -
Moretti G.,
Mazzaglia E.,
D'Anieri A.,
Merlino V.,
Magaudda L.,
Mondello M.R.,
Santoro G.,
Vaccaro M.,
Albanese A.
Publication year - 1995
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1995.tb00167.x
Subject(s) - medicine , epidermolysis bullosa , bladder exstrophy , pathognomonic , dermatology , epispadias , urinary bladder , surgery , pathology , disease
We report the second infant of nonconsanguineous parents with epidermolysis bullosa junctionalls associated with urinary bladder extrophy, epispadias, anterlorized 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 constallation of findings.