[Junctional epidermolysis bullosa: should circumcision be allowed?].

BACKGROUND

Junctional epidermolysis bullosa is an uncommon heterogeneous syndrome transmitted by recessive autosomal inheritance. In addition to the classical skin lesions, the syndrome may include mucosal involvement which further complicates treatment. A few cases with urinary tract lesions dominating long-term prognosis have been reported.

CASE REPORT

An child born in 1987 had junctional epidermolysis bullosa associated with urethral stenosis. Skin lesions typical of generalized atrophic benign junctional epidermolysis bullosa were observed. Urinary tract involvement developed after ritual circumcision and led to stenosis of the urethral meatus. Endourethral dilatations were unsuccessful and led to complete stenosis of the urethra, requiring life-long indwelling suprapubic catheter.

DISCUSSION

Due to the risk of urinary tract involvement, we discuss the risks involved with circumcision in certain forms of junctional epidermolysis bullosa.