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Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype
Collagen VI-related myopathies are characterized by severe muscle involvement and skin involvement (keratosis pilaris and impaired healing with the development of abnormal scars, especially keloids). Scalp involvement and hair loss have not been reported among cutaneous changes associated with colla...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10095448/ https://www.ncbi.nlm.nih.gov/pubmed/37047652 http://dx.doi.org/10.3390/ijms24076678 |
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author | Starace, Michela Pampaloni, Francesca Bruni, Francesca Quadrelli, Federico Cedirian, Stephano Baraldi, Carlotta Misciali, Cosimo Di Martino, Alberto Sabatelli, Patrizia Merlini, Luciano Piraccini, Bianca Maria |
author_facet | Starace, Michela Pampaloni, Francesca Bruni, Francesca Quadrelli, Federico Cedirian, Stephano Baraldi, Carlotta Misciali, Cosimo Di Martino, Alberto Sabatelli, Patrizia Merlini, Luciano Piraccini, Bianca Maria |
author_sort | Starace, Michela |
collection | PubMed |
description | Collagen VI-related myopathies are characterized by severe muscle involvement and skin involvement (keratosis pilaris and impaired healing with the development of abnormal scars, especially keloids). Scalp involvement and hair loss have not been reported among cutaneous changes associated with collagen VI mutations. The aim of this study is to describe the clinical, trichoscopic, and histological findings of the scalp changes in patients affected by COL VI mutations and to estimate their prevalence. Patients with Ullrich congenital muscular dystrophy were enrolled and underwent clinical and trichoscopic examinations and a scalp biopsy for histopathology. Five patients were enrolled, and all complained of hair loss and scalp itching. One patient showed yellow interfollicular scales with erythema and dilated, branched vessels, and the histological findings were suggestive of scalp psoriasis. Two patients presented with scarring alopecia patches on the vertex area, and they were histologically diagnosed with folliculitis decalvans. The last two patients presented with scaling and hair thinning, but they were both diagnosed with folliculitis and perifolliculitis. Ten more patients answered to a “scalp involvement questionnaire”, and six of them confirmed to have or have had scalp disorders and/or itching. Scalp involvement can be associated with COL VI mutations and should be investigated. |
format | Online Article Text |
id | pubmed-10095448 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-100954482023-04-13 Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype Starace, Michela Pampaloni, Francesca Bruni, Francesca Quadrelli, Federico Cedirian, Stephano Baraldi, Carlotta Misciali, Cosimo Di Martino, Alberto Sabatelli, Patrizia Merlini, Luciano Piraccini, Bianca Maria Int J Mol Sci Article Collagen VI-related myopathies are characterized by severe muscle involvement and skin involvement (keratosis pilaris and impaired healing with the development of abnormal scars, especially keloids). Scalp involvement and hair loss have not been reported among cutaneous changes associated with collagen VI mutations. The aim of this study is to describe the clinical, trichoscopic, and histological findings of the scalp changes in patients affected by COL VI mutations and to estimate their prevalence. Patients with Ullrich congenital muscular dystrophy were enrolled and underwent clinical and trichoscopic examinations and a scalp biopsy for histopathology. Five patients were enrolled, and all complained of hair loss and scalp itching. One patient showed yellow interfollicular scales with erythema and dilated, branched vessels, and the histological findings were suggestive of scalp psoriasis. Two patients presented with scarring alopecia patches on the vertex area, and they were histologically diagnosed with folliculitis decalvans. The last two patients presented with scaling and hair thinning, but they were both diagnosed with folliculitis and perifolliculitis. Ten more patients answered to a “scalp involvement questionnaire”, and six of them confirmed to have or have had scalp disorders and/or itching. Scalp involvement can be associated with COL VI mutations and should be investigated. MDPI 2023-04-03 /pmc/articles/PMC10095448/ /pubmed/37047652 http://dx.doi.org/10.3390/ijms24076678 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/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 (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Starace, Michela Pampaloni, Francesca Bruni, Francesca Quadrelli, Federico Cedirian, Stephano Baraldi, Carlotta Misciali, Cosimo Di Martino, Alberto Sabatelli, Patrizia Merlini, Luciano Piraccini, Bianca Maria Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype |
title | Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype |
title_full | Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype |
title_fullStr | Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype |
title_full_unstemmed | Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype |
title_short | Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype |
title_sort | alopecia in patients with collagen vi-related myopathies: a novel/unrecognized scalp phenotype |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10095448/ https://www.ncbi.nlm.nih.gov/pubmed/37047652 http://dx.doi.org/10.3390/ijms24076678 |
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