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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| Format: | Article |
| Language: | English |
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MDPI AG
2022-08-01
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| Series: | Biomedicines |
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| Online Access: | https://www.mdpi.com/2227-9059/10/8/2039 |
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| author | Chiara Moltrasio Paola Maura Tricarico Maurizio Romagnuolo Angelo Valerio Marzano Sergio Crovella |
| author_facet | Chiara Moltrasio Paola Maura Tricarico Maurizio Romagnuolo Angelo Valerio Marzano Sergio Crovella |
| author_sort | Chiara Moltrasio |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-09T10:00:48Z |
| format | Article |
| id | doaj.art-cb72c3bc05ed4dce8bd31312446a7123 |
| institution | Directory Open Access Journal |
| issn | 2227-9059 |
| language | English |
| last_indexed | 2024-03-09T10:00:48Z |
| publishDate | 2022-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomedicines |
| spelling | doaj.art-cb72c3bc05ed4dce8bd31312446a71232023-12-01T23:29:39ZengMDPI AGBiomedicines2227-90592022-08-01108203910.3390/biomedicines10082039Hidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the DiseaseChiara Moltrasio0Paola Maura Tricarico1Maurizio Romagnuolo2Angelo Valerio Marzano3Sergio Crovella4Dermatology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, ItalyInstitute for Maternal and Child Health IRCCS Burlo Garofolo, 34137 Trieste, ItalyDermatology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, ItalyDermatology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, ItalyBiological Science Program, Department of Biological and Environmental Sciences, College of Arts and Sciences, Qatar University, Doha P.O. Box 2713, QatarHidradenitis 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.https://www.mdpi.com/2227-9059/10/8/2039hidradenitis suppurativagenetic diseasedermatological diseaseacne inversa |
| spellingShingle | Chiara Moltrasio Paola Maura Tricarico Maurizio Romagnuolo Angelo Valerio Marzano Sergio Crovella Hidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the Disease Biomedicines hidradenitis suppurativa genetic disease dermatological disease acne inversa |
| 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 | hidradenitis suppurativa genetic disease dermatological disease acne inversa |
| url | https://www.mdpi.com/2227-9059/10/8/2039 |
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