Incontinentia pigmenti (Bloch-Sulzberger syndrome)

被引：2

作者：

Muehlenstaedt, E. ^{[1
]}

Eigelshoven, S. ^{[1
]}

Hoff, N. P. ^{[1
]}

Reifenberger, J. ^{[1
]}

Homey, B. ^{[1
]}

Bruch-Gerharz, D. ^{[1
]}

机构：

[1] Univ Klinikums Dusseldorf, Hautklin, D-40225 Dusseldorf, Germany

来源：

HAUTARZT | 2010年 / 61卷 / 10期

关键词：

Incontinentia pigmenti; Bloch-Suizberger syndrome; Dermatopathologic examination; Genodermatosis; X-chromosomal dominant;

D O I：

10.1007/s00105-010-2046-0

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100227 [皮肤病学];

摘要：

A female infant, aged two weeks, presented with linear erythematous crusted papules, plaques and blisters on the right leg which had occurred two days after birth. Histological examination revealed typical features of incontinentia pigmenti in the inflammatory stage. Incontinentia pigmenti is a rare X-linked dominant genodermatosis caused by mutations in the NEMO gene located at Xq28 affecting the skin, different organ systems, the central nervous system, eyes, teeth and skeleton with variable expression. We summarize important clinical and diagnostic aspects of incontinentia pigmenti as well as its genetic and molecular basis.

引用

页码：831 / 833

页数：3

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