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Uncombable Hair in a Case of Zellweger Syndrome – A New Association

Zellweger syndrome (ZS) is a rare autosomal recessive, peroxisomal biogenesis disorder (PBD) that occurs due to a mutation in any of the thirteen peroxin (PEX) genes. It is reported to manifest with varying degrees of severity, ranging from non-specific gastrointestinal abnormalities, nail and ename...

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Autores principales: Jahnavi, Yatham, Sharada, R. G, Wahab, Afthab Jameela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10231715/
https://www.ncbi.nlm.nih.gov/pubmed/37266105
http://dx.doi.org/10.4103/idoj.idoj_467_22
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author Jahnavi, Yatham
Sharada, R. G
Wahab, Afthab Jameela
author_facet Jahnavi, Yatham
Sharada, R. G
Wahab, Afthab Jameela
author_sort Jahnavi, Yatham
collection PubMed
description Zellweger syndrome (ZS) is a rare autosomal recessive, peroxisomal biogenesis disorder (PBD) that occurs due to a mutation in any of the thirteen peroxin (PEX) genes. It is reported to manifest with varying degrees of severity, ranging from non-specific gastrointestinal abnormalities, nail and enamel defects to multisystem involvement (cerebro-hepato-renal syndrome, eye, ear, and neurological abnormalities). Uncombable hair syndrome (UHS) is a rare hair shaft disorder characterized by dry, frizzy, unmanageable hair. Diagnosis of UHS can be confirmed by scanning electron microscopy (SEM), which reveals a triangular cross-section of the hair. We report a case of UHS with a hitherto unreported association of ZS (due to a homozygous mutation of PEX 12).
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spelling pubmed-102317152023-06-01 Uncombable Hair in a Case of Zellweger Syndrome – A New Association Jahnavi, Yatham Sharada, R. G Wahab, Afthab Jameela Indian Dermatol Online J Case Report Zellweger syndrome (ZS) is a rare autosomal recessive, peroxisomal biogenesis disorder (PBD) that occurs due to a mutation in any of the thirteen peroxin (PEX) genes. It is reported to manifest with varying degrees of severity, ranging from non-specific gastrointestinal abnormalities, nail and enamel defects to multisystem involvement (cerebro-hepato-renal syndrome, eye, ear, and neurological abnormalities). Uncombable hair syndrome (UHS) is a rare hair shaft disorder characterized by dry, frizzy, unmanageable hair. Diagnosis of UHS can be confirmed by scanning electron microscopy (SEM), which reveals a triangular cross-section of the hair. We report a case of UHS with a hitherto unreported association of ZS (due to a homozygous mutation of PEX 12). Wolters Kluwer - Medknow 2023-04-04 /pmc/articles/PMC10231715/ /pubmed/37266105 http://dx.doi.org/10.4103/idoj.idoj_467_22 Text en Copyright: © 2023 Indian Dermatology Online Journal https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Jahnavi, Yatham
Sharada, R. G
Wahab, Afthab Jameela
Uncombable Hair in a Case of Zellweger Syndrome – A New Association
title Uncombable Hair in a Case of Zellweger Syndrome – A New Association
title_full Uncombable Hair in a Case of Zellweger Syndrome – A New Association
title_fullStr Uncombable Hair in a Case of Zellweger Syndrome – A New Association
title_full_unstemmed Uncombable Hair in a Case of Zellweger Syndrome – A New Association
title_short Uncombable Hair in a Case of Zellweger Syndrome – A New Association
title_sort uncombable hair in a case of zellweger syndrome – a new association
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10231715/
https://www.ncbi.nlm.nih.gov/pubmed/37266105
http://dx.doi.org/10.4103/idoj.idoj_467_22
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