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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...

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Autores principales: Montero-Vilchez, Trinidad, Remon-Love, Alexandra, Tercedor-Sánchez, Jesús, Arias-Santiago, Salvador
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
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.
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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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