Ramot Yuval, Zlotogorski Abraham, Molho-Pessach Vered
Department of Dermatology, Hadassah Medical Center, The Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Skin Appendage Disord. 2019 Apr;5(3):162-164. doi: 10.1159/000493649. Epub 2018 Oct 11.
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.
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。