Superficial Epidermolytic Ichthyosis: A Report of Two Families

被引：6

作者：

Cervantes, Tessa ^{[1
]}

Pham, Catherine ^{[1
]}

Browning, John C. ^{[1
,2
]}

机构：

[1] Univ Texas Hlth Sci Ctr San Antonio, Div Dermatol & Cutaneous Surg, San Antonio, TX 77229 USA

[2] Univ Texas Hlth Sci Ctr San Antonio, Dept Pediat, San Antonio, TX 77229 USA

来源：

PEDIATRIC DERMATOLOGY | 2013年 / 30卷 / 04期

关键词：

KERATIN; 2E; SIEMENS; BULLOSA; MUTATION; DOMAIN; THERAPY; GENE;

D O I：

10.1111/j.1525-1470.2012.01750.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Superficial epidermolytic ichthyosis (SEI), previously known as ichthyosis bullosa of Siemens, is a rare genetic skin condition, characterized by blisters and hyperkeratosis. It can be easily confused with epidermolytic hyperkeratosis, known now as epidermolytic ichthyosis, and genetic testing can be helpful in differentiating between the two conditions. We describe two children with SEI confirmed by genetic testing, including one with a novel mutation. We also describe other affected family members with SEI.

引用

页码：469 / 472

页数：4

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