{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:27:30Z","timestamp":1791228450781,"version":"4.1.0"},"reference-count":16,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatology"],"published-print":{"date-parts":[[2022]]},"abstract":"<b><i>Background:<\/i><\/b> 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. <b><i>Objective:<\/i><\/b> To describe clinical features and genetic signature of patients with the main syndromic HS forms, i.e., PASH, PAPASH, and PASH\/SAPHO overlapping. <b><i>Methods:<\/i><\/b> Whole-exome sequencing (WES) approach was performed in ten patients with syndromic HS. <b><i>Results:<\/i><\/b> 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 <i>NOD2<\/i> gene, two variants in <i>OTULIN<\/i>, and a variant in <i>GJB2<\/i>, respectively. Three PAPASH and three PASH\/SAPHO overlapping patients who had also joint inflammation showed two different variants in <i>NCSTN<\/i>, one in <i>WDR1<\/i> and <i>PSTPIP1<\/i>, and two variants in <i>NLRC4<\/i>, one of whom was present in a patient with a mixed phenotype characterized by gut and joint inflammation. <b><i>Limitations:<\/i><\/b> Limited number of patients that can be counterbalanced by the rarity of syndromic HS. <b><i>Conclusion:<\/i><\/b> Syndromic HS can be considered as a polygenic autoinflammatory condition; currently WES is a diagnostic tool allowing more accurate genotype-phenotype correlation. <\/jats:p>","DOI":"10.1159\/000521263","type":"journal-article","created":{"date-parts":[[2022,1,14]],"date-time":"2022-01-14T22:00:36Z","timestamp":1642197636000},"page":"860-869","source":"Crossref","is-referenced-by-count":61,"title":["Whole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation"],"prefix":"10.1159","volume":"238","author":[{"given":"Angelo Valerio","family":"Marzano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Genovese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Moltrasio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola 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