Cherif F, Fazaa B, Mokhtar I, Kamoun M R
Service de Dermatologie, Hôpital Charles Nicolle, Tunis.
Ann Dermatol Venereol. 1998 Oct;125(10):724-6.
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.
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.
Due to the risk of urinary tract involvement, we discuss the risks involved with circumcision in certain forms of junctional epidermolysis bullosa.
交界性大疱性表皮松解症是一种罕见的隐性常染色体遗传异质性综合征。除了典型的皮肤病变外，该综合征可能包括黏膜受累，这进一步使治疗复杂化。有少数病例报道尿路病变主导长期预后。
一名1987年出生的儿童患有交界性大疱性表皮松解症并伴有尿道狭窄。观察到典型的泛发性萎缩性良性交界性大疱性表皮松解症的皮肤病变。尿路受累在仪式性包皮环切术后出现，并导致尿道口狭窄。尿道内扩张未成功，导致尿道完全狭窄，需要终身留置耻骨上导尿管。
由于存在尿路受累的风险，我们讨论了某些形式的交界性大疱性表皮松解症中包皮环切术所涉及的风险。
