Background: The 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. Objective: To describe clinical features and genetic signature of patients with the main syndromic HS forms, i.e., PASH, PAPASH, and PASH/SAPHO overlapping. Methods: Whole-exome sequencing (WES) approach was performed in ten patients with syndromic HS. Results: 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. Limitations: Limited number of patients that can be counterbalanced by the rarity of syndromic HS. Conclusion: Syndromic HS can be considered as a polygenic autoinflammatory condition; currently WES is a diagnostic tool allowing more accurate genotype-phenotype correlation.

SYNDROMIC HIDRADENITIS SUPPURATIVA: GENOTYPE-PHENOTYPE CORRELATION THROUGH WHOLE-EXOME SEQUENCING IN 10 UNRELATED PATIENTS / G. Genovese ; tutor: A. V. Marzano ; coordinatore: M. Del Fabbro. - : . Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, 2022. ((35. ciclo, Anno Accademico 2022.

SYNDROMIC HIDRADENITIS SUPPURATIVA: GENOTYPE-PHENOTYPE CORRELATION THROUGH WHOLE-EXOME SEQUENCING IN 10 UNRELATED PATIENTS

G. Genovese
2022

Abstract

Background: The 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. Objective: To describe clinical features and genetic signature of patients with the main syndromic HS forms, i.e., PASH, PAPASH, and PASH/SAPHO overlapping. Methods: Whole-exome sequencing (WES) approach was performed in ten patients with syndromic HS. Results: 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. Limitations: Limited number of patients that can be counterbalanced by the rarity of syndromic HS. Conclusion: Syndromic HS can be considered as a polygenic autoinflammatory condition; currently WES is a diagnostic tool allowing more accurate genotype-phenotype correlation.
MARZANO, ANGELO VALERIO
DEL FABBRO, MASSIMO
Settore MED/35 - Malattie Cutanee e Veneree
SYNDROMIC HIDRADENITIS SUPPURATIVA: GENOTYPE-PHENOTYPE CORRELATION THROUGH WHOLE-EXOME SEQUENCING IN 10 UNRELATED PATIENTS / G. Genovese ; tutor: A. V. Marzano ; coordinatore: M. Del Fabbro. - : . Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, 2022. ((35. ciclo, Anno Accademico 2022.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/945807
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