Cargando…
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 disea...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9294941/ https://www.ncbi.nlm.nih.gov/pubmed/35950143 http://dx.doi.org/10.1159/000525383 |
_version_ | 1784749958585384960 |
---|---|
author | Tootoonchi, Nassim Azhari, Vahideh Razavi, Zahra Seraji, Shadab Kianfar, Nika Mahmoudi, Hamidreza Daneshpazooh, Maryam |
author_facet | Tootoonchi, Nassim Azhari, Vahideh Razavi, Zahra Seraji, Shadab Kianfar, Nika Mahmoudi, Hamidreza Daneshpazooh, Maryam |
author_sort | Tootoonchi, Nassim |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9294941 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
spelling | pubmed-92949412022-08-09 A Young Boy with Brittle Hair Tootoonchi, Nassim Azhari, Vahideh Razavi, Zahra Seraji, Shadab Kianfar, Nika Mahmoudi, Hamidreza Daneshpazooh, Maryam Case Rep Dermatol Single Case 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. S. Karger AG 2022-06-28 /pmc/articles/PMC9294941/ /pubmed/35950143 http://dx.doi.org/10.1159/000525383 Text en Copyright © 2022 by The Author(s). Published by S. Karger AG, Basel https://creativecommons.org/licenses/by-nc/4.0/This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission. |
spellingShingle | Single Case Tootoonchi, Nassim Azhari, Vahideh Razavi, Zahra Seraji, Shadab Kianfar, Nika Mahmoudi, Hamidreza Daneshpazooh, Maryam A Young Boy with Brittle Hair |
title | A Young Boy with Brittle Hair |
title_full | A Young Boy with Brittle Hair |
title_fullStr | A Young Boy with Brittle Hair |
title_full_unstemmed | A Young Boy with Brittle Hair |
title_short | A Young Boy with Brittle Hair |
title_sort | young boy with brittle hair |
topic | Single Case |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9294941/ https://www.ncbi.nlm.nih.gov/pubmed/35950143 http://dx.doi.org/10.1159/000525383 |
work_keys_str_mv | AT tootoonchinassim ayoungboywithbrittlehair AT azharivahideh ayoungboywithbrittlehair AT razavizahra ayoungboywithbrittlehair AT serajishadab ayoungboywithbrittlehair AT kianfarnika ayoungboywithbrittlehair AT mahmoudihamidreza ayoungboywithbrittlehair AT daneshpazoohmaryam ayoungboywithbrittlehair AT tootoonchinassim youngboywithbrittlehair AT azharivahideh youngboywithbrittlehair AT razavizahra youngboywithbrittlehair AT serajishadab youngboywithbrittlehair AT kianfarnika youngboywithbrittlehair AT mahmoudihamidreza youngboywithbrittlehair AT daneshpazoohmaryam youngboywithbrittlehair |