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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...

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Autores principales: Tootoonchi, Nassim, Azhari, Vahideh, Razavi, Zahra, Seraji, Shadab, Kianfar, Nika, Mahmoudi, Hamidreza, Daneshpazooh, Maryam
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
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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.
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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
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