P63-related disorders: Dermatological characteristics in 22 patients
P63-related disorders: Dermatological characteristics in 22 patients
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DOI：
10.1111/exd.14045
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发表时间：
2019-10-01
影响因子：
3.6
通讯作者：
Hadj-Rabia, Smail
中科院分区：
文献类型：
--
作者：
Maillard, Alexia;Alby, Caroline;Hadj-Rabia, Smail
在P63相关的外胚叶发育不良（艾德）中，临床特征集中在皮肤外表现。皮肤病学表型仍然不完全的特点。我们报告了22例携带TP63突变的患者的皮肤病学特征。糜烂、红皮病和色素异常是P63相关性ED的特征。我们的数据表明，患者可分为两种主要的P63相关疾病：AEC和EEC。RHS和ADEARS分别代表轻度AEC和EEC形式。
In P63-related ectodermal dysplasias (ED), the clinical characteristics focus on extra-cutaneous manifestations. The dermatological phenotype remains incompletely characterized. We report the dermatological features of 22 patients carrying a TP63 mutation. Erosions, erythroderma and pigmentary anomalies are characteristics of P63-related ED. Our data suggest that patients might be classified into two major P63-related disorders: AEC and EEC. RHS and ADULT represent mild AEC and EEC forms, respectively.