A Case of a Surviving Male Infant with Incontinentia Pigmenti

被引：3

作者：

Song, Ji Young ^{[1
]}

Na, Chan Ho ^{[1
]}

Chung, Byoung Soo ^{[1
]}

Choi, Kyu Cherl ^{[1
]}

Shin, Bong Seok ^{[1
]}

机构：

[1] Chosun Univ, Sch Med, Dept Dermatol, Kwangju 501717, South Korea

来源：

ANNALS OF DERMATOLOGY | 2008年 / 20卷 / 03期

关键词：

Bloch-Sulzberger's disease; Incontinentia pigmenti;

D O I：

10.5021/ad.2008.20.3.134

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Incontinentia pigmenti (Bloch-Sulzberger's disease) is an X-linked dominantly inherited disorder which is usually lethal in hemizygous males, but rarely found in male infants. It can be explained by the presence of an extra X chromosome (Klinefelter's syndrome), hypomorphic mutations, and somatic mosaicism. We herein report a rare case of incontinentia pigmenti with typical course of skin manifestation in normal karyotype (46, XY) male infant.

引用

页码：134 / 137

页数：4

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