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.

Hidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the Disease / C. Moltrasio, P. MAURA TRICARICO, M. Romagnuolo, A.V. Marzano, S. Crovella. - In: BIOMEDICINES. - ISSN 2227-9059. - 10:8(2022 Aug 21), pp. 2039.1-2039.14. [10.3390/biomedicines10082039]

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

M. Romagnuolo;A.V. Marzano
Penultimo
;
2022

Abstract

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.
acne inversa; dermatological disease; genetic disease; hidradenitis suppurativa
Settore MED/35 - Malattie Cutanee e Veneree
21-ago-2022
Article (author)
File in questo prodotto:
File Dimensione Formato  
biomedicines-10-02039-v2.pdf

accesso aperto

Tipologia: Publisher's version/PDF
Dimensione 556.64 kB
Formato Adobe PDF
556.64 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/954034
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 16
  • ???jsp.display-item.citation.isi??? 18
social impact