{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T21:24:47Z","timestamp":1787261087376,"version":"build-2736575974"},"reference-count":10,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,7,28]],"date-time":"2024-07-28T00:00:00Z","timestamp":1722124800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pyrin\u2010associated autoinflammation with neutrophilic dermatosis (PAAND) is a rare, monogenic, autoinflammatory disorder caused by mutations in exon 2 of the <jats:italic>MEFV<\/jats:italic> gene. Characterized by neutrophilic dermatosis, recurrent fever, and arthralgia, this syndrome presents a diagnostic challenge due to its low prevalence and varied clinical manifestations. Here, we present the case of a 49\u2010year\u2010old Spanish male with severe hidradenitis suppurativa and pyoderma gangrenosum with a heterozygous variant (p.E244K) in the <jats:italic>MEFV<\/jats:italic> gene, consistent with PAAND syndrome. This variant has only been documented in one other case with notable similarities. Both patients share Spanish ancestry and present a severe form of hidradenitis suppurativa. Treatment of the disorder presents challenges due to its variable response to standard therapies. Anti\u2010interleukin\u20101 agents, such as anakinra or anti\u2010tumor necrosis factor (TNF)\u2010\u03b1 are the therapeutic approaches supported by the most substantial evidence. Our findings highlight the importance of genetic evaluation of <jats:italic>MEFV<\/jats:italic> mutations in individuals with neutrophilic dermatosis and systemic symptoms.<\/jats:p>","DOI":"10.1111\/1346-8138.17390","type":"journal-article","created":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T05:35:21Z","timestamp":1722231321000},"page":"1702-1706","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Pyrin\u2010associated autoinflammation with neutrophilic dermatosis: A case report"],"prefix":"10.1111","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0601-0995","authenticated-orcid":false,"given":"Roc\u00edo C.","family":"Bueno\u2010Molina","sequence":"first","affiliation":[{"name":"Department of Dermatology Virgen del Rocio University Hospital  Seville Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2525-4069","authenticated-orcid":false,"given":"Juan\u2010Carlos","family":"Hern\u00e1ndez\u2010Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Department of Dermatology Virgen del Rocio University Hospital  Seville Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Zulueta\u2010Dorado","sequence":"additional","affiliation":[{"name":"Department of Pathological Anatomy Virgen del Rocio University Hospital  Seville Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6843-5877","authenticated-orcid":false,"given":"Jose\u2010Juan","family":"Pereyra\u2010Rodriguez","sequence":"additional","affiliation":[{"name":"Department of Dermatology Virgen del Rocio University Hospital  Seville Spain"},{"name":"Faculty of Medicine University of Seville  Seville Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,7,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875\u2010023\u201001621\u20105"},{"key":"e_1_2_9_3_1","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1111\/ddg.13486","article-title":"Short\u2010term effi cacy of adalimumab in a patient with pyrin\u2010associated autoinfl ammation with neutrophilic dermatosis","volume":"16","author":"Gargallo V","year":"2018","journal-title":"J Dtsch Dermatol Ges"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2024.148155"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2022.111472"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/keab221"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aaf1471"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2017-211473"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2021.3899"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/keaa005"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/kead294"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.17390","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,7]],"date-time":"2024-12-07T03:51:06Z","timestamp":1733543466000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.17390"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,28]]},"references-count":10,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1111\/1346-8138.17390"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.17390","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,28]]},"assertion":[{"value":"2024-04-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}