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Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome
Griscelli syndrome (GS) is a rare disease that is characterized by silvery hair and fair skin. It is included in congenital grey hair syndromes, a rare group of autosomal recessive disorders characterized by silvery grey hair and severe multisystem disorders, such as immune system impairment, defect...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008316/ https://www.ncbi.nlm.nih.gov/pubmed/33803120 http://dx.doi.org/10.3390/dermatopathology8010010 |
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author | Montero-Vilchez, Trinidad Remon-Love, Alexandra Tercedor-Sánchez, Jesús Arias-Santiago, Salvador |
author_facet | Montero-Vilchez, Trinidad Remon-Love, Alexandra Tercedor-Sánchez, Jesús Arias-Santiago, Salvador |
author_sort | Montero-Vilchez, Trinidad |
collection | PubMed |
description | Griscelli syndrome (GS) is a rare disease that is characterized by silvery hair and fair skin. It is included in congenital grey hair syndromes, a rare group of autosomal recessive disorders characterized by silvery grey hair and severe multisystem disorders, such as immune system impairment, defects in immunological function, ocular and skeletal alterations, and nervous system defects. Herein, we report a rare case of GS type 1 and highlight the importance of a dermatological and hair examination to make an early diagnosis of these life-threatening diseases. |
format | Online Article Text |
id | pubmed-8008316 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-80083162021-03-31 Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome Montero-Vilchez, Trinidad Remon-Love, Alexandra Tercedor-Sánchez, Jesús Arias-Santiago, Salvador Dermatopathology (Basel) Case Report Griscelli syndrome (GS) is a rare disease that is characterized by silvery hair and fair skin. It is included in congenital grey hair syndromes, a rare group of autosomal recessive disorders characterized by silvery grey hair and severe multisystem disorders, such as immune system impairment, defects in immunological function, ocular and skeletal alterations, and nervous system defects. Herein, we report a rare case of GS type 1 and highlight the importance of a dermatological and hair examination to make an early diagnosis of these life-threatening diseases. MDPI 2021-03-09 /pmc/articles/PMC8008316/ /pubmed/33803120 http://dx.doi.org/10.3390/dermatopathology8010010 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Montero-Vilchez, Trinidad Remon-Love, Alexandra Tercedor-Sánchez, Jesús Arias-Santiago, Salvador Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome |
title | Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome |
title_full | Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome |
title_fullStr | Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome |
title_full_unstemmed | Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome |
title_short | Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome |
title_sort | hair shaft examination: a practical tool to diagnose griscelli syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008316/ https://www.ncbi.nlm.nih.gov/pubmed/33803120 http://dx.doi.org/10.3390/dermatopathology8010010 |
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