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
收藏
页码：134 / 137
页数：4
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