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一个头发脆弱的小男孩。

A Young Boy with Brittle Hair.

作者信息

Tootoonchi Nassim, Azhari Vahideh, Razavi Zahra, Seraji Shadab, Kianfar Nika, Mahmoudi Hamidreza, Daneshpazooh Maryam

机构信息

Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Department of Dermatopathology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

Case Rep Dermatol. 2022 Jun 28;14(2):184-187. doi: 10.1159/000525383. eCollection 2022 May-Aug.

Abstract

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.

摘要

毛发硫营养不良症(TTD)是一种罕见的多系统疾病,呈常染色体隐性遗传模式。TTD的表现多种多样,从仅出现头发异常,如头发脆、易折断,到出现身心发育迟缓。已确定DNA修复基因的突变是导致该疾病的原因。一名5岁男孩因头发稀疏、短且脆前来我院就诊。他的父母是近亲结婚。毛发镜检查和光学显微镜检查显示有断发,但没有特定的发干缺陷。由于无法进行偏振显微镜检查,我们采用了一种床旁技术。我们使用偏振皮肤镜和一面镜子,依次对发干进行透照,结果显示出明显的明暗相间条纹。这些条纹被称为“虎尾”,是TTD的特征性体征。随后的偏振显微镜检查也证实了临床诊断。这突出了一种观察虎尾的可行方法,扩展了已知的TTD临床诊断工具。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a474/9294941/b9fdc75348f7/cde-0014-0184-g01.jpg

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