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Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases presenting with extensive congenital milia

机译:具有先天性adermatoglyphia(BASAN综合征)的外胚层发育不良:两种案例呈现出广泛的先天性米利亚

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摘要

Basan syndrome is a rare autosomal dominant genodermatosis, characterized by rapidly healing congenital acral bullae, congenital milia and adermatoglyphia (lack of finger and toeprints). This type of ectodermal dysplasia has been infrequently reported in the literature. A pathogenic mutation in the SMARCAD1 gene has been demonstrated to cause this rare disorder.
机译:巴桑综合征是一种罕见的常染色体显性遗传性皮肤病,其特征是迅速治愈先天性肢端大疱、先天性粟粒疹和副口形纹(缺乏手指和脚印)。这种类型的外胚层发育不良在文献中很少报道。SMARCAD1基因的致病性突变已被证明是导致这种罕见疾病的原因。

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