一个头发脆弱的小男孩。

IF 0.9 Q4 DERMATOLOGY
Case Reports in Dermatology Pub Date : 2022-06-28 eCollection Date: 2022-05-01 DOI:10.1159/000525383
Nassim Tootoonchi, Vahideh Azhari, Zahra Razavi, Shadab Seraji, Nika Kianfar, Hamidreza Mahmoudi, Maryam Daneshpazooh
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引用次数: 0

摘要

毛硫营养不良(TTD)是一种罕见的多系统疾病与常染色体隐性遗传模式。TTD的表现各不相同,有的只是头发异常,如易碎的头发,有的则是身体和精神发育迟缓。DNA修复基因的突变已被确定为导致这种疾病的原因。一个5岁的男孩,他的头发稀疏、短而易碎。他出生于近亲家庭。毛镜和光镜检查显示毛发断裂,没有特定的轴缺陷。由于偏光显微镜的不可及性,采用床边技术。我们使用了一个偏振光的皮肤镜和一面镜子来实现毛干的透光,它显示了醒目的亮带和暗带。这些条带被称为“虎尾”,这是TTD的典型症状。随后的偏光显微镜检查也证实了临床诊断。这突出了一种可行的观察虎尾的方法,扩大了已知的TTD临床诊断工具。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

A Young Boy with Brittle Hair.

A Young Boy with Brittle Hair.

Trichothiodystrophy (TTD) is a rare multisystem disorder with an autosomal recessive mode of inheritance. TTD presentations vary from only hair abnormalities like brittle, fragile hair to physical and mental retardation. Mutations of DNA repair genes have been identified as responsible for the disease. A 5-year-old boy presented with sparse, short, and brittle hair to our clinic. He was born to consanguineous parents. Trichoscopy and light microscopy revealed broken hairs with no specific shaft defect. Due to the inaccessibility of the polarized microscopy, a bedside technique was employed. We used a polarized dermatoscope and a mirror in order of achieving transillumination of the hair shafts, which revealed striking bright and dark bands. These bands are referred to as "tiger tail," which is the pathognomonic sign of TTD. Subsequent polarizing microscopy also confirmed the clinical diagnosis. This highlighted a feasible method for observing the tiger tail, which expanded the known clinical diagnostic tools of TTD.

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来源期刊
CiteScore
1.60
自引率
0.00%
发文量
57
审稿时长
9 weeks
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