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伴有先天性无指纹症的外胚层发育不良(巴萨恩综合征):两例伴有广泛性先天性粟丘疹的病例报告。

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

作者信息

Nieto-Benito Lula María, Molina-López Irene, Feito-Rodríguez Marta, Martínez-González Víctor, Suárez-Fernández Ricardo, Campos-Dominguez Minia

机构信息

Department of Dermatology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.

Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain.

出版信息

Pediatr Dermatol. 2021 Mar;38(2):530-532. doi: 10.1111/pde.14512. Epub 2021 Jan 24.

Abstract

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.

摘要

巴萨恩综合征是一种罕见的常染色体显性遗传性皮肤病,其特征为先天性肢端大疱愈合迅速、先天性粟丘疹和无皮纹症(缺乏指纹和趾纹)。这种外胚层发育不良类型在文献中报道较少。已证实SMARCAD1基因的致病性突变会导致这种罕见疾病。

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