经基因检测确诊的伴有丘疹性皮损的脱毛症：一例报告

Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report.

作者信息

Boisen Julie, Lewis Jade, Hendrick Sophia J

机构信息

Dermatology, Baylor Scott & White Health, Temple, USA.

General Medicine, United States Navy, Jacksonville, USA.

出版信息

Cureus. 2022 Dec 15;14(12):e32562. doi: 10.7759/cureus.32562. eCollection 2022 Dec.

DOI:10.7759/cureus.32562

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9840447/

Abstract

Atrichia with papular lesions (APL) is a rare form of alopecia characterized by the diffuse, complete, irreversible loss of hair shortly after birth and the presence of diffuse keratotic papules and milia-like cysts. Multiple hairless gene () mutations on the zinc finger domain of chromosome 8p12 have been associated with this disorder. We present the case of a 5-year-old girl with classic clinical findings of APL, with a diagnosis confirmed via genetic testing.

摘要

伴有丘疹性损害的无毛症（APL）是一种罕见的脱发形式，其特征为出生后不久头发弥漫性、完全性、不可逆脱落，以及存在弥漫性角化性丘疹和粟丘疹样囊肿。8号染色体p12区域锌指结构域上的多个无毛基因（）突变与该疾病相关。我们报告了一名5岁女孩的病例，其具有APL的典型临床特征，基因检测确诊了该诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b93/9840447/8a92b0e6d6bb/cureus-0014-00000032562-i01.jpg

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