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Hidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the Disease

Hidradenitis Suppurativa (HS) is a chronic inflammatory skin disease of the pilosebaceous unit, clinically consisting of painful nodules, abscesses, and sinus tracts mostly in, but not limited to, intertriginous skin areas. HS can be defined as a complex skin disease with multifactorial etiologies,...

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Autores principales: Moltrasio, Chiara, Tricarico, Paola Maura, Romagnuolo, Maurizio, Marzano, Angelo Valerio, Crovella, Sergio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9406067/
https://www.ncbi.nlm.nih.gov/pubmed/36009585
http://dx.doi.org/10.3390/biomedicines10082039
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author Moltrasio, Chiara
Tricarico, Paola Maura
Romagnuolo, Maurizio
Marzano, Angelo Valerio
Crovella, Sergio
author_facet Moltrasio, Chiara
Tricarico, Paola Maura
Romagnuolo, Maurizio
Marzano, Angelo Valerio
Crovella, Sergio
author_sort Moltrasio, Chiara
collection PubMed
description Hidradenitis Suppurativa (HS) is a chronic inflammatory skin disease of the pilosebaceous unit, clinically consisting of painful nodules, abscesses, and sinus tracts mostly in, but not limited to, intertriginous skin areas. HS can be defined as a complex skin disease with multifactorial etiologies, including—among others—genetic, immunologic, epigenetic, and environmental factors. Based on genetic heterogeneity and complexity, three different forms can be recognized and considered separately as sporadic, familial, and syndromic. To date, several genetic variants associated to disease susceptibility, disease-onset, and/or treatment response have been reported; some of these reside in genes encoding the gamma-secretase subunits whereas others involve autoinflammatory and/or keratinization genes. The aim of this perspective work is to provide an overview of the contribution of several genetic studies encompassing family linkage analyses, target candidate gene studies, and -omic studies in this field. In our viewpoint, we discuss the role of genetics in Hidradenitis suppurativa considering findings based on Sanger sequencing as well as the more recent Next Generation Sequencing (i.e., exome sequencing or RNA Sequencing) with the aim of better understanding the etio-pathogenesis of the disease as well as identifying novel therapeutic strategies.
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spelling pubmed-94060672022-08-26 Hidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the Disease Moltrasio, Chiara Tricarico, Paola Maura Romagnuolo, Maurizio Marzano, Angelo Valerio Crovella, Sergio Biomedicines Viewpoint Hidradenitis Suppurativa (HS) is a chronic inflammatory skin disease of the pilosebaceous unit, clinically consisting of painful nodules, abscesses, and sinus tracts mostly in, but not limited to, intertriginous skin areas. HS can be defined as a complex skin disease with multifactorial etiologies, including—among others—genetic, immunologic, epigenetic, and environmental factors. Based on genetic heterogeneity and complexity, three different forms can be recognized and considered separately as sporadic, familial, and syndromic. To date, several genetic variants associated to disease susceptibility, disease-onset, and/or treatment response have been reported; some of these reside in genes encoding the gamma-secretase subunits whereas others involve autoinflammatory and/or keratinization genes. The aim of this perspective work is to provide an overview of the contribution of several genetic studies encompassing family linkage analyses, target candidate gene studies, and -omic studies in this field. In our viewpoint, we discuss the role of genetics in Hidradenitis suppurativa considering findings based on Sanger sequencing as well as the more recent Next Generation Sequencing (i.e., exome sequencing or RNA Sequencing) with the aim of better understanding the etio-pathogenesis of the disease as well as identifying novel therapeutic strategies. MDPI 2022-08-21 /pmc/articles/PMC9406067/ /pubmed/36009585 http://dx.doi.org/10.3390/biomedicines10082039 Text en © 2022 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 Viewpoint
Moltrasio, Chiara
Tricarico, Paola Maura
Romagnuolo, Maurizio
Marzano, Angelo Valerio
Crovella, Sergio
Hidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the Disease
title Hidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the Disease
title_full Hidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the Disease
title_fullStr Hidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the Disease
title_full_unstemmed Hidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the Disease
title_short Hidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the Disease
title_sort hidradenitis suppurativa: a perspective on genetic factors involved in the disease
topic Viewpoint
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9406067/
https://www.ncbi.nlm.nih.gov/pubmed/36009585
http://dx.doi.org/10.3390/biomedicines10082039
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