Superficial Epidermolytic Ichthyosis: A Report of Two Families
Superficial Epidermolytic Ichthyosis: A Report of Two Families
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DOI：
10.1111/j.1525-1470.2012.01750.x
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发表时间：
2013-07-01
影响因子：
1.5
通讯作者：
Browning, John C.
中科院分区：
文献类型：
--
作者：
Cervantes, Tessa;Pham, Catherine;Browning, John C.
浅表性表皮松解性鱼鳞病(SEI)，以前被西门子称为大疱性鱼鳞病，是一种罕见的遗传性皮肤疾病，以水泡和角化过度为特征。它很容易与表皮松解性过度角化病混淆，现在被称为表皮松解性鱼鳞病，基因检测有助于区分这两种情况。我们描述了两名经基因检测证实患有SEI的儿童，其中一名儿童患有一种新的突变。我们还描述了其他受SEI影响的家庭成员。
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.