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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2023
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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). |
format | Online Article Text |
id | pubmed-10231715 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
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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