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

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.

Grantor dc:publisher

Università degli Studi di Milano

Year dc:date

2022

Author dc:creator

• GENOVESE, GIOVANNI

Contributors dc:contributor

• tutor: A. V. Marzano ; coordinatore: M. Del Fabbro
• G. Genovese
• MARZANO, ANGELO VALERIO
• DEL FABBRO, MASSIMO

• Settore MED/35 - Malattie Cutanee e Veneree

Statement dc:rights

• info:eu-repo/semantics/openAccess

Language dc:language

eng

Identifier

http://dx.doi.org/10.13130/genovese-giovanni_phd2022-12-14
10.13130/genovese-giovanni_phd2022-12-14

OAI identifier oai:identifier

oai:air.unimi.it:2434/945807