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

被引：0
作者：
Boisen, Julie [1 ]
Lewis, Jade [2 ]
Hendrick, Sophia J. [1 ]
机构：
[1] Baylor Scott & White Hlth, Dermatology, Temple, TX 76508 USA
[2] US Navy, Gen Med, Jacksonville, FL USA
来源：
CUREUS JOURNAL OF MEDICAL SCIENCE | 2022年 / 14卷 / 12期
关键词：
pediatric alopecia; hairless gene; pediatric hair loss; alopecia; atrichia with papular lesions; MUTATIONS;
D O I：
10.7759/cureus.32562
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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 (HR) 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.
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页数：4
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