文献简介

出版社:Pediatric Dermatology

作  者:Evelina Buinauskaite, M.D.,* Jurate Buinauskiene, M.D., Ph.D.,

编  号:10.1111/j.1525-1470.2010.01261.x

关键字:Incontinentia pigmenti,Klinefelter syndrome

年  份:2010   点击量:973

文献摘要

Incontinentia pigmenti, also known as Bloch–Sulzberger syndrome, is a hereditary, X-linked dominant disorder characterized by abnormalities of skin, hair, teeth, eyes, and the central nervous system.It is classically considered a male-lethal disorder leading to recurrent miscarriages of male fetuses. We report a rare case of a surviving baby boy with the classic clinical features of incontinentia pigmenti that can be explained by Klinefelter syndrome.

色素失禁症,也称为布洛赫-苏兹贝格综合征,是一种遗传性的、X-连锁显性疾病,以皮肤、毛发、牙齿、眼睛和中枢神经系统异常为特征。它被认为是一种导致男性胎儿习惯性流产的典型的男性致命性疾病。我们报告的一例罕见的具有色素失禁症典型临床特征的幸存男婴病例,可以通过克氏综合症来解释。