The H Syndrome

被引：14

作者：

El-Khateeb, Ekramy A. ^{[1
]}

机构：

[1] Ain Shams Univ, Fac Med, Dept Dermatol Venereol & Androl, Cairo, Egypt

来源：

PEDIATRIC DERMATOLOGY | 2010年 / 27卷 / 01期

关键词：

MANIFESTATIONS; POEMS; SKIN;

D O I：

10.1111/j.1525-1470.2009.01076.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

The H syndrome is a recently defined autosomal recessive genodermatosis caused by mutations in the nucleoside transporter hENT3. It is characterized by cutaneous changes of progressive sclerosis, hyperpigmentation, and hypertrichosis that follow a specific pattern and are associated with multiple systemic manifestations. A case is presented and a brief review is introduced based on the few related reports.

引用

页码：65 / 68

页数：4

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