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Whole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation.

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 wi...

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Published in:Dermatology (10188665) Vol. 238; no. 5; pp. 860 - 870
Main Authors: Marzano, Angelo Valerio, Genovese, Giovanni, Moltrasio, Chiara, Tricarico, Paola Maura, Gratton, Rossella, Piaserico, Stefano, Garcovich, Simone, Boniotto, Michele, Brandão, Lucas, Moura, Ronald, Crovella, Sergio
Format: Journal Article
Published: Karger AG Sep2022
Online Access:View this record in EBSCOhost
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        10188665
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      jtl: Dermatology (10188665)
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      dt: Sep2022
      vid: 238
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      pub: Karger AG
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        10.1159/000521263
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        158993475
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        atl: Whole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation.
      aug:
        au:
          Marzano, Angelo Valerio
          Genovese, Giovanni
          Moltrasio, Chiara
          Tricarico, Paola Maura
          Gratton, Rossella
          Piaserico, Stefano
          Garcovich, Simone
          Boniotto, Michele
          Brandão, Lucas
          Moura, Ronald
          Crovella, Sergio
        affil: Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
      sug:
        subj:
          Hidradenitis Suppurativa Diagnosis
          Arthritis
          Pyoderma Gangrenosum Diagnosis
          Inflammation
          Genetic Techniques
          Scales
          Arthritis Impact Measurement Scales
      ab: 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.
      pubtype: Academic Journal
      doctype: Journal Article
      ougenre: Article
    language: English
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