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难梳理毛发综合征样疾病的自发快速缓解

Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease.

作者信息

Ramot Yuval, Zlotogorski Abraham, Molho-Pessach Vered

机构信息

Department of Dermatology, Hadassah Medical Center, The Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

出版信息

Skin Appendage Disord. 2019 Apr;5(3):162-164. doi: 10.1159/000493649. Epub 2018 Oct 11.

Abstract

Uncombable hair syndrome (UHS) is a unique hair shaft disease characterized by frizzy, straw-colored hair, which is resistant to combing and brushing. Familial cases have been described, and recently mutations in genes related to trichohyalin production have been reported as the cause for this condition. UHS usually manifests during early childhood, and gradually resolves at puberty. Herein, we report on a 2-year-old boy whose hair changed to a UHS-like phenotype "overnight" with no apparent trigger. The condition resolved abruptly after 9 months. Genetic analysis revealed a heterozygous variant in the gene, which has been connected to hair development. This case raises the possibility that a genetic cause can lead to a temporary change in hair shaft appearance, possibly after exposure to a yet unknown external trigger.

摘要

难梳理毛发综合征(UHS)是一种独特的毛干疾病,其特征为毛发卷曲、呈稻草色,难以梳理和刷毛。已有家族性病例的描述,最近有报道称与毛透明蛋白产生相关的基因突变是导致这种病症的原因。UHS通常在幼儿期出现,并在青春期逐渐缓解。在此,我们报告一名2岁男孩,其毛发“一夜之间”变成了类似UHS的表型,且无明显诱因。9个月后病情突然缓解。基因分析显示该基因存在杂合变异,该基因与毛发发育有关。这个病例增加了一种可能性,即遗传原因可能导致毛干外观的暂时改变,可能是在接触了未知的外部诱因之后。

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Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease.难梳理毛发综合征样疾病的自发快速缓解
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本文引用的文献

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Uncombable hair syndrome with a woolly hair nevus.具有羊毛状毛发痣的难梳理毛发综合征。
Indian J Dermatol Venereol Leprol. 2017 Jan-Feb;83(1):87-88. doi: 10.4103/0378-6323.191133.
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Molecular genetics of alopecias.脱发的分子遗传学
Curr Probl Dermatol. 2015;47:87-96. doi: 10.1159/000369408. Epub 2015 Feb 20.
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The twisting tale of woolly hair: a trait with many causes.卷曲毛发的曲折故事:一种由多种原因导致的特征。
J Med Genet. 2015 Apr;52(4):217-23. doi: 10.1136/jmedgenet-2014-102630. Epub 2015 Jan 5.

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