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AuthorMarzano, Angelo Valerio
AuthorGenovese, Giovanni
AuthorMoltrasio, Chiara
AuthorTricarico, Paola Maura
AuthorGratton, Rossella
AuthorPiaserico, Stefano
AuthorGarcovich, Simone
AuthorBoniotto, Michele
AuthorBrandão, Lucas
AuthorMoura, Ronald
AuthorCrovella, Sergio
Available date2022-01-24T11:04:34Z
Publication Date2022-01-14
Publication NameDermatology
Identifierhttp://dx.doi.org/10.1159/000521263
CitationMarzano A, V, Genovese G, Moltrasio C, Tricarico P, M, Gratton R, Piaserico S, Garcovich S, Boniotto M, Brandão L, Moura R, Crovella S: Whole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation. Dermatology 2022. doi: 10.1159/000521263
ISSN1018-8665
URIhttp://hdl.handle.net/10576/25903
AbstractThe genetics of syndromic hidradenitis suppurativa (HS), an immune-mediated condition associated with systemic comorbidities such as inflammatory bowel diseases and arthritis, has not been completely elucidated. To describe clinical features and genetic signature of patients with the main syndromic HS forms, i.e., PASH, PAPASH, and PASH/SAPHO overlapping. Whole-exome sequencing (WES) approach was performed in ten patients with syndromic HS. Three clinical settings have been identified based on presence/absence of gut and joint inflammation. Four PASH patients who had also gut inflammation showed three different variants in NOD2 gene, two variants in OTULIN, and a variant in GJB2, respectively. Three PAPASH and three PASH/SAPHO overlapping patients who had also joint inflammation showed two different variants in NCSTN, one in WDR1 and PSTPIP1, and two variants in NLRC4, one of whom was present in a patient with a mixed phenotype characterized by gut and joint inflammation. Limited number of patients that can be counterbalanced by the rarity of syndromic HS. Syndromic HS can be considered as a polygenic autoinflammatory condition; currently WES is a diagnostic tool allowing more accurate genotype-phenotype correlation.
SponsorThis work was supported by a Biomolecular Analyses for Tailored Medicine in AcneiNversa (BATMAN) project, funded by ERA PerMed.
Languageen
PublisherKarger Publishers
SubjectAcne
Arthritis
Autoinflammation
Gut inflammation
Hidradenitis suppurativa
Keratinization
Pyoderma gangrenosum
Whole-exome sequencing
TitleWhole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation.
TypeArticle
ESSN1421-9832
dc.accessType Full Text


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