{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:41:04Z","timestamp":1790620864644,"version":"4.1.0"},"reference-count":82,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T00:00:00Z","timestamp":1725235200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Hidradenitis suppurativa (HS) is a chronic and debilitating inflammatory skin disease that often exhibits heterogeneity in its clinical presentation, especially in the context of its rare syndromic forms. The pathogenesis of HS results from a complex interplay of genetic predisposition, innate and adaptive immunity dysregulation, smoking, obesity and environmental factors. In the early phase of the disease, the innate immune system is hyperactivated, contributing to tissue damage and triggering the activation and amplification of the adaptive immune response, which plays a pivotal role in the chronic stages of the disease. Recent studies focused on elucidating the importance of innate immunity impairment and autoinflammation in HS and increasing evidence has emerged on the occurrence of the disease in the context of well-known monogenic and polygenic autoinflammatory syndromes (AIDs). This review provides a comprehensive examination of the current scientific background supporting the contribution of autoinflammation to HS etiology, including genetic data, molecular studies and clinical evidence, as well as the association between HS and AIDs. However, further research is needed to shed light on the pathogenic mechanism of this challenging condition and to identify potential perspectives for future therapeutic approaches.<\/jats:p>","DOI":"10.3390\/jcm13175211","type":"journal-article","created":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T10:07:35Z","timestamp":1725271655000},"page":"5211","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Evidence on Hidradenitis Suppurativa as an Autoinflammatory Skin Disease"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8315-3413","authenticated-orcid":false,"given":"Martina","family":"D\u2019Onghia","sequence":"first","affiliation":[{"name":"Dermatology Unit, Department of Medical, Surgical and Neurological Sciences, University of Siena, 53100 Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dalma","family":"Malvaso","sequence":"additional","affiliation":[{"name":"UOC di Dermatologia, Dipartimento di Scienze Mediche e Chirurgiche, Fondazione Policlinico Universitario A. Gemelli - IRCCS, 00168 Rome, Italy"},{"name":"Dermatologia, Dipartimento di Medicina e Chirurgia Traslazionale, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Galluccio","sequence":"additional","affiliation":[{"name":"Dermatology Unit, Department of Medical, Surgical and Neurological Sciences, University of Siena, 53100 Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5283-2859","authenticated-orcid":false,"given":"Flaminia","family":"Antonelli","sequence":"additional","affiliation":[{"name":"UOC di Dermatologia, Dipartimento di Scienze Mediche e Chirurgiche, Fondazione Policlinico Universitario A. Gemelli - IRCCS, 00168 Rome, Italy"},{"name":"Dermatologia, Dipartimento di Medicina e Chirurgia Traslazionale, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Coscarella","sequence":"additional","affiliation":[{"name":"UOC di Dermatologia, Dipartimento di Scienze Mediche e Chirurgiche, Fondazione Policlinico Universitario A. Gemelli - IRCCS, 00168 Rome, Italy"},{"name":"Dermatologia, Dipartimento di Medicina e Chirurgia Traslazionale, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Rubegni","sequence":"additional","affiliation":[{"name":"Dermatology Unit, Department of Medical, Surgical and Neurological Sciences, University of Siena, 53100 Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ketty","family":"Peris","sequence":"additional","affiliation":[{"name":"UOC di Dermatologia, Dipartimento di Scienze Mediche e Chirurgiche, Fondazione Policlinico Universitario A. Gemelli - IRCCS, 00168 Rome, Italy"},{"name":"Dermatologia, Dipartimento di Medicina e Chirurgia Traslazionale, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5238-2336","authenticated-orcid":false,"given":"Laura","family":"Calabrese","sequence":"additional","affiliation":[{"name":"Dermatology Unit, Department of Medical, Surgical and Neurological Sciences, University of Siena, 53100 Siena, Italy"},{"name":"Dermatologia, Dipartimento di Medicina e Chirurgia Traslazionale, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000503605","article-title":"A Comparison of International Management Guidelines for Hidradenitis Suppurativa","volume":"237","author":"Hendricks","year":"2021","journal-title":"Dermatology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1111\/jdv.12857","article-title":"Verneuil\u2019s disease, innate immunity and vitamin D: A pilot study","volume":"29","author":"Guillet","year":"2015","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"S4","DOI":"10.1016\/j.jaad.2015.07.052","article-title":"Hidradenitis suppurativa: Epidemiology and scope of the problem","volume":"73","author":"Jemec","year":"2015","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1590\/abd1806-4841.20197687","article-title":"Clinical manifestations and quality of life in hidradenitis suppurativa patients: Survey of participants from an internet support group","volume":"94","author":"Tavora","year":"2019","journal-title":"An. Bras. Dermatol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1111\/jdv.16677","article-title":"Hidradenitis suppurativa: An update on epidemiology, phenotypes, diagnosis, pathogenesis, comorbidities and quality of life","volume":"35","author":"Nguyen","year":"2021","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1111\/j.1468-3083.2009.03356.x","article-title":"Hidradenitis suppurativa","volume":"23","author":"Revuz","year":"2009","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1056\/NEJMcp1014163","article-title":"Clinical practice. Hidradenitis suppurativa","volume":"366","author":"Jemec","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1016\/j.jaad.2019.08.090","article-title":"Hidradenitis suppurativa: Epidemiology, clinical presentation, and pathogenesis","volume":"82","author":"Goldburg","year":"2020","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"328","DOI":"10.2340\/00015555-1082","article-title":"Psychosocial impact of hidradenitis suppurativa: A qualitative study","volume":"91","author":"Esmann","year":"2011","journal-title":"Acta Derm. Venereol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1111\/j.1468-3083.2012.04468.x","article-title":"Depression in patients with hidradenitis suppurativa","volume":"27","author":"Onderdijk","year":"2013","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"257","DOI":"10.4103\/cjp.cjp_67_21","article-title":"Hidradenitis suppurativa: Disease pathophysiology and sex hormones","volume":"64","author":"Chu","year":"2021","journal-title":"Chin. J. Physiol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1056\/NEJMoa1504370","article-title":"Two Phase 3 Trials of Adalimumab for Hidradenitis Suppurativa","volume":"375","author":"Kimball","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/S0140-6736(23)00022-3","article-title":"Secukinumab in moderate-to-severe hidradenitis suppurativa (SUNSHINE and SUNRISE): Week 16 and week 52 results of two identical, multicentre, randomised, placebo-controlled, double-blind phase 3 trials","volume":"401","author":"Kimball","year":"2023","journal-title":"Lancet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2504","DOI":"10.1016\/S0140-6736(24)00101-6","article-title":"Efficacy and safety of bimekizumab in patients with moderate-to-severe hidradenitis suppurativa (BE HEARD I and BE HEARD II): Two 48-week, randomised, double-blind, placebo-controlled, multicentre phase 3 trials","volume":"403","author":"Kimball","year":"2024","journal-title":"Lancet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1038\/s41572-020-0149-1","article-title":"Hidradenitis suppurativa","volume":"6","author":"Sabat","year":"2020","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1093\/bjd\/ljad421","article-title":"Role of the NLRP1 inflammasome in skin cancer and inflammatory skin diseases","volume":"190","author":"Calabrese","year":"2024","journal-title":"Br. J. Dermatol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1038\/ni.3777","article-title":"The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation","volume":"18","author":"Manthiram","year":"2017","journal-title":"Nat. Immunol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1545","DOI":"10.1016\/j.jaci.2017.05.019","article-title":"Autoinflammatory keratinization diseases","volume":"140","author":"Akiyama","year":"2017","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Nomura, T. (2020). Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease. Front. Immunol., 11.","DOI":"10.3389\/fimmu.2020.00847"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.jid.2018.09.036","article-title":"Are Bacteria Infectious Pathogens in Hidradenitis Suppurativa? Debate at the Symposium for Hidradenitis Suppurativa Advances Meeting, November 2017","volume":"139","author":"Naik","year":"2019","journal-title":"J. Investig. Dermatol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1759720X19895488","DOI":"10.1177\/1759720X19895488","article-title":"Hidradenitis suppurativa: Infection, autoimmunity, or both?","volume":"11","author":"Constantinou","year":"2019","journal-title":"Ther. Adv. Musculoskelet. Dis."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1001\/jamadermatol.2017.0904","article-title":"The Follicular Skin Microbiome in Patients With Hidradenitis Suppurativa and Healthy Controls","volume":"153","author":"Ring","year":"2017","journal-title":"JAMA Dermatol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1111\/j.1365-2133.2010.10034.x","article-title":"Hidradenitis suppurativa\/acne inversa: Bilocated epithelial hyperplasia with very different sequelae","volume":"164","author":"Stadie","year":"2011","journal-title":"Br. J. Dermatol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1111\/j.1365-2133.2007.08425.x","article-title":"Toll-like receptor 2 is highly expressed in lesions of acne inversa and colocalizes with C-type lectin receptor","volume":"158","author":"Hunger","year":"2008","journal-title":"Br. J. Dermatol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1016\/j.ejcb.2010.04.008","article-title":"Interleukin-1, inflammasomes and the skin","volume":"89","author":"Feldmeyer","year":"2010","journal-title":"Eur. J. Cell Biol."},{"key":"ref_26","first-page":"e49390","article-title":"The Pathogenesis and Treatment of Hidradenitis Suppurativa","volume":"15","author":"Agnese","year":"2023","journal-title":"Cureus"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1016\/j.jid.2018.11.018","article-title":"The IL-1 Pathway Is Hyperactive in Hidradenitis Suppurativa and Contributes to Skin Infiltration and Destruction","volume":"139","author":"Wolk","year":"2019","journal-title":"J. Investig. Dermatol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1431","DOI":"10.1111\/bjd.14075","article-title":"Dysregulated cytokine expression in lesional and nonlesional skin in hidradenitis suppurativa","volume":"173","author":"Kelly","year":"2015","journal-title":"Br. J. Dermatol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1111\/bjd.20975","article-title":"Therapeutic potential of targeting interleukin-1 family cytokines in chronic inflammatory skin diseases","volume":"186","author":"Calabrese","year":"2022","journal-title":"Br. J. Dermatol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.jid.2023.11.004","article-title":"Emerging Role of the IL-36\/IL-36R Axis in Multiple Inflammatory Skin Diseases","volume":"144","author":"Ahmad","year":"2024","journal-title":"J. Investig. Dermatol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1007\/s40259-023-00587-5","article-title":"Targeting IL-36 in Inflammatory Skin Diseases","volume":"37","author":"Fukaura","year":"2023","journal-title":"BioDrugs"},{"key":"ref_32","first-page":"260","article-title":"T helper 17 cell\/regulatory T-cell imbalance in hidradenitis suppurativa\/acne inversa: The link to hair follicle dissection, obesity, smoking and autoimmune comorbidities","volume":"179","author":"Melnik","year":"2018","journal-title":"Br. J. Dermatol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"2389","DOI":"10.1016\/j.jid.2017.05.033","article-title":"Hidradenitis Suppurativa Is Characterized by Dysregulation of the Th17:Treg Cell Axis, Which Is Corrected by Anti-TNF Therapy","volume":"137","author":"Moran","year":"2017","journal-title":"J. Investig. Dermatol."},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Calabrese, L., Malvaso, D., Coscarella, G., Antonelli, F., D\u2019Amore, A., Gori, N., Rubegni, P., Peris, K., and Chiricozzi, A. (2024). Therapeutic Potential of IL-1 Antagonism in Hidradenitis Suppurativa. Biomolecules, 14.","DOI":"10.3390\/biom14020175"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.jaad.2009.02.013","article-title":"Clinical characteristics of a series of 302 French patients with hidradenitis suppurativa, with an analysis of factors associated with disease severity","volume":"61","author":"Revuz","year":"2009","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1038\/jid.2012.472","article-title":"Identification of three hidradenitis suppurativa phenotypes: Latent class analysis of a cross-sectional study","volume":"133","author":"Revuz","year":"2013","journal-title":"J. Investig. Dermatol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1126\/science.1196284","article-title":"Gamma-secretase gene mutations in familial acne inversa","volume":"330","author":"Wang","year":"2010","journal-title":"Science"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1159\/000512455","article-title":"gamma-Secretase Genetics of Hidradenitis Suppurativa: A Systematic Literature Review","volume":"237","author":"Wang","year":"2021","journal-title":"Dermatology"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1111\/bjd.14383","article-title":"PSTPIP1 gene mutation in a pyoderma gangrenosum, acne and suppurative hidradenitis (PASH) syndrome","volume":"175","author":"Canueto","year":"2016","journal-title":"Br. J. Dermatol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1016\/j.jaci.2015.04.016","article-title":"Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases","volume":"136","author":"Holzinger","year":"2015","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1002\/eji.201746947","article-title":"Function and mechanism of the pyrin inflammasome","volume":"48","author":"Heilig","year":"2018","journal-title":"Eur. J. Immunol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1111\/ijd.13503","article-title":"Familial Mediterranean fever patients with hidradenitis suppurativa","volume":"56","author":"Vural","year":"2017","journal-title":"Int. J. Dermatol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1111\/bjd.17466","article-title":"Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: A case-control study","volume":"180","author":"Vural","year":"2019","journal-title":"Br. J. Dermatol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1111\/1346-8138.17230","article-title":"Genetic mutations in pyoderma gangrenosum, hidradenitis suppurativa, and associated autoinflammatory syndromes: Insights into pathogenic mechanisms and shared pathways","volume":"51","author":"Moltrasio","year":"2024","journal-title":"J. Dermatol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1111\/j.1365-2133.2011.10254.x","article-title":"Elevated levels of tumour necrosis factor (TNF)-alpha, interleukin (IL)-1beta and IL-10 in hidradenitis suppurativa skin: A rationale for targeting TNF-alpha and IL-1beta","volume":"164","author":"Dik","year":"2011","journal-title":"Br. J. Dermatol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1016\/j.jid.2020.01.023","article-title":"Lesional Inflammatory Profile in Hidradenitis Suppurativa Is Not Solely Driven by IL-1","volume":"140","author":"Vossen","year":"2020","journal-title":"J. Investig. Dermatol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"e139932","DOI":"10.1172\/jci.insight.139932","article-title":"Immunopathogenesis of hidradenitis suppurativa and response to anti-TNF-alpha therapy","volume":"5","author":"Lowe","year":"2020","journal-title":"JCI Insight"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1007\/s00403-017-1769-5","article-title":"IL-36 cytokines are increased in acne and hidradenitis suppurativa","volume":"309","author":"Balato","year":"2017","journal-title":"Arch. Dermatol. Res."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1111\/bjd.16019","article-title":"Interleukin-36 in hidradenitis suppurativa: Evidence for a distinctive proinflammatory role and a key factor in the development of an inflammatory loop","volume":"178","author":"Hessam","year":"2018","journal-title":"Br. J. Dermatol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"2091","DOI":"10.1111\/jdv.14389","article-title":"Increased expression of the interleukin-36 cytokines in lesions of hidradenitis suppurativa","volume":"31","author":"Thomi","year":"2017","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1093\/bjd\/ljad184","article-title":"Targeting the NLRP3 inflammasome reduces inflammation in hidradenitis suppurativa skin","volume":"189","author":"Moran","year":"2023","journal-title":"Br. J. Dermatol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"2544","DOI":"10.3390\/cimb46030161","article-title":"The NLRP3 Inflammasome Gene Is Overexpressed in Hidradenitis Suppurativa Lesions: A Preliminary Study on the Role of Pyroptosis in Disease Pathogenesis","volume":"46","author":"Krajewski","year":"2024","journal-title":"Curr. Issues Mol. Biol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/j.clindermatol.2020.10.016","article-title":"PASH, PAPASH, PsAPASH, and PASS: The autoinflammatory syndromes of hidradenitis suppurativa","volume":"39","author":"Garcovich","year":"2021","journal-title":"Clin. Dermatol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.det.2023.12.004","article-title":"Hidradenitis Suppurativa-Related Autoinflammatory Syndromes: An Updated Review on the Clinics, Genetics, and Treatment of Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PASH), Pyogenic Arthritis, Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PAPASH), Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO), and Rarer Forms","volume":"42","author":"Maronese","year":"2024","journal-title":"Dermatol. Clin."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1007\/s40257-017-0265-1","article-title":"PAPA, PASH and PAPASH Syndromes: Pathophysiology, Presentation and Treatment","volume":"18","author":"Cugno","year":"2017","journal-title":"Am. J. Clin. Dermatol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1159\/000521263","article-title":"Whole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation","volume":"238","author":"Marzano","year":"2022","journal-title":"Dermatology"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1111\/bjd.13668","article-title":"First nicastrin mutation in PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome","volume":"173","author":"Duchatelet","year":"2015","journal-title":"Br. J. Dermatol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1111\/ijd.13603","article-title":"Autoinflammatory syndromes associated with hidradenitis suppurativa and\/or acne","volume":"56","author":"Vinkel","year":"2017","journal-title":"Int. J. Dermatol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.medcli.2020.03.018","article-title":"PAPASH syndrome with MEFV gene mutation","volume":"156","year":"2021","journal-title":"Med. Clin."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.abd.2019.02.012","article-title":"PsAPASH: A rare and recent autoinflammatory syndrome associated with hidradenitis suppurativa","volume":"95","author":"Gadelha","year":"2020","journal-title":"An. Bras. Dermatol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"e42","DOI":"10.1016\/j.jaad.2014.10.002","article-title":"PsAPASH: A new syndrome associated with hidradenitis suppurativa with response to tumor necrosis factor inhibition","volume":"72","author":"Saraceno","year":"2015","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"e439","DOI":"10.1111\/jdv.17171","article-title":"A case of PAPASH syndrome in a young man carrying a novel heterozygote missense variant in PSTPIP1","volume":"35","author":"Kotzerke","year":"2021","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"e478","DOI":"10.1111\/jdv.16385","article-title":"PASS: A rare syndrome within the autoinflammatory diseases that still lacks a genetic marker","volume":"34","author":"Schwob","year":"2020","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1159\/000443648","article-title":"PASS Syndrome: An IL-1-Driven Autoinflammatory Disease","volume":"232","author":"Leuenberger","year":"2016","journal-title":"Dermatology"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1016\/j.semarthrit.2012.05.006","article-title":"The SAPHO syndrome","volume":"42","author":"Nguyen","year":"2012","journal-title":"Semin. Arthritis Rheum."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1111\/bjd.14691","article-title":"Pyoderma gangrenosum and its syndromic forms: Evidence for a link with autoinflammation","volume":"175","author":"Marzano","year":"2016","journal-title":"Br. J. Dermatol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.jbspin.2017.04.010","article-title":"SAPHO, autophagy, IL-1, FoxO1, and Propionibacterium (Cutibacterium) acnes","volume":"85","author":"Berthelot","year":"2018","journal-title":"Joint Bone Spine"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.3899\/jrheum.171007","article-title":"Is SAPHO Syndrome Linked to PASH Syndrome and Hidradenitis Suppurativa by Nicastrin Mutation? A Case Report","volume":"45","author":"Li","year":"2018","journal-title":"J. Rheumatol."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"2019","DOI":"10.1016\/j.jid.2017.04.024","article-title":"Hidradenitis Suppurativa Is Associated with Familial Mediterranean Fever-A Population-Based Study","volume":"137","author":"Hodak","year":"2017","journal-title":"J. Investig. Dermatol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.jbspin.2016.02.021","article-title":"Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patients","volume":"84","author":"Abbara","year":"2017","journal-title":"Joint Bone Spine"},{"key":"ref_71","doi-asserted-by":"crossref","unstructured":"Guillem, P., Mintoff, D., Kabbani, M., Cogan, E., Vlaeminck-Guillem, V., Duquesne, A., and Benhadou, F. (2022). Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa\u2014A New Syndromic Form of HS? A Report of Two Cases. Front. Immunol., 13.","DOI":"10.3389\/fimmu.2022.883811"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"e125","DOI":"10.1111\/1346-8138.14666","article-title":"Familial or sporadic porokeratosis as an autoinflammatory keratinization disease","volume":"46","author":"Takeichi","year":"2019","journal-title":"J. Dermatol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1038\/ni.3457","article-title":"Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS","volume":"17","author":"Park","year":"2016","journal-title":"Nat. Immunol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1038\/s41584-022-00797-1","article-title":"IL-1 and autoinflammatory disease: Biology, pathogenesis and therapeutic targeting","volume":"18","author":"Broderick","year":"2022","journal-title":"Nat. Rev. Rheumatol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"e444","DOI":"10.1111\/jdv.19706","article-title":"Hyper-IgD syndrome and hidradenitis suppurativa: An intriguing link","volume":"38","author":"Calabrese","year":"2024","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1093\/ced\/llad003","article-title":"Paradoxical hidradenitis suppurativa due to anti-interleukin-1 agents for mevalonate kinase deficiency successfully treated with the addition of ustekinumab","volume":"48","year":"2023","journal-title":"Clin. Exp. Dermatol."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1001\/jamadermatol.2015.3903","article-title":"Safety and Efficacy of Anakinra in Severe Hidradenitis Suppurativa: A Randomized Clinical Trial","volume":"152","author":"Tzanetakou","year":"2016","journal-title":"JAMA Dermatol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.jaad.2013.09.044","article-title":"An open-label study of anakinra for the treatment of moderate to severe hidradenitis suppurativa","volume":"70","author":"Leslie","year":"2014","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_79","doi-asserted-by":"crossref","unstructured":"Markota Cagalj, A., Marinovic, B., and Bukvic Mokos, Z. (2022). New and Emerging Targeted Therapies for Hidradenitis Suppurativa. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23073753"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.jaci.2024.05.006","article-title":"The coming of age of protein degraders as anti-inflammatory therapeutics","volume":"154","author":"Gudjonsson","year":"2024","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"EVIDoa2300155","DOI":"10.1056\/EVIDoa2300155","article-title":"Brepocitinib, Zimlovisertib, and Ropsacitinib in Hidradenitis Suppurativa","volume":"3","author":"Kimball","year":"2024","journal-title":"NEJM Evid."},{"key":"ref_82","doi-asserted-by":"crossref","unstructured":"Alavi, A., Prens, E., Kimball, A.B., Frew, J.W., Krueger, J.G., Mukhopadhyay, S., Gao, H., Ranganathan, U., Ivanoff, N.B., and Hernandez Daly, A.C. (2024). Proof-of-concept study exploring the effect of spesolimab in patients with moderate-to-severe hidradenitis suppurativa: A randomized, double-blind, placebo-controlled clinical trial. Br. J. Dermatol., ljae144.","DOI":"10.1093\/bjd\/ljae144"}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/17\/5211\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:47:31Z","timestamp":1760111251000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/17\/5211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,2]]},"references-count":82,"journal-issue":{"issue":"17","published-online":{"date-parts":[[2024,9]]}},"alternative-id":["jcm13175211"],"URL":"https:\/\/doi.org\/10.3390\/jcm13175211","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,2]]}}}