{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:16:24Z","timestamp":1787008584915,"version":"build-2736575974"},"reference-count":17,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T00:00:00Z","timestamp":1666915200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,2,2]]},"abstract":"<jats:p>The synergistic effect of two mutations of the innate immune system may facilitate hyperactivation and dysregulation of the inflammasome in skin macrophages. This case connects two diseases, hidradenitis suppurativa and porokeratosis, by the central role of autoinflammation.<\/jats:p>","DOI":"10.1093\/ced\/llac023","type":"journal-article","created":{"date-parts":[[2023,1,20]],"date-time":"2023-01-20T09:22:49Z","timestamp":1674206569000},"page":"161-165","source":"Crossref","is-referenced-by-count":11,"title":["Successful treatment with anakinra in generalized spiculated porokeratosis and severe hidradenitis suppurativa in a patient with\n                    <i>MVK<\/i>\n                    and\n                    <i>MEFV<\/i>\n                    mutations"],"prefix":"10.1093","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3810-6188","authenticated-orcid":false,"given":"Ayse","family":"Oktem","sequence":"first","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine, Ankara University , Ankara , Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4898-278X","authenticated-orcid":false,"given":"Gunel","family":"Rasulova","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine, Koc University , \u0130stanbul , Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Busra","family":"Cavdarli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ankara Bilkent City Hospital , Ankara , Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seher","family":"Bostanci","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine, Ankara University , Ankara , Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aylin","family":"Heper","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine, Ankara University , Ankara , Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6561-196X","authenticated-orcid":false,"given":"Secil","family":"Vural","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine, Koc University , \u0130stanbul , Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,10,28]]},"reference":[{"key":"2023100307122517600_llac023-B1","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.3389\/fimmu.2020.01753","article-title":"Editorial: autoinflammatory keratinization disease (AiKD)","volume":"11","author":"Akiyama","year":"2020","journal-title":"Front Immunol"},{"key":"2023100307122517600_llac023-B2","doi-asserted-by":"crossref","first-page":"280","DOI":"10.3389\/fimmu.2020.00280","article-title":"Autoinflammatory keratinization diseases (AiKDs): expansion of disorders to be included","volume":"11","author":"Akiyama","year":"2020","journal-title":"Front Immunol"},{"key":"2023100307122517600_llac023-B3","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1111\/1346-8138.14343","article-title":"Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis","volume":"45","author":"Leng","year":"2018","journal-title":"J Dermatol"},{"key":"2023100307122517600_llac023-B4","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2023100307122517600_llac023-B5","author":"Varsome"},{"key":"2023100307122517600_llac023-B6","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/sj.ejhg.5201352","article-title":"Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation","volume":"13","author":"Hoffmann","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"2023100307122517600_llac023-B7","author":"Varsome"},{"key":"2023100307122517600_llac023-B8","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":"2023100307122517600_llac023-B9","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":"2023100307122517600_llac023-B10","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":"2023100307122517600_llac023-B11","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1097\/MD.0b013e318190cfb7","article-title":"Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome","volume":"87","author":"van der Hilst","year":"2008","journal-title":"Medicine (Baltimore"},{"key":"2023100307122517600_llac023-B12","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.1038\/ng.2409","article-title":"Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis","volume":"44","author":"Zhang","year":"2012","journal-title":"Nat Genet"},{"key":"2023100307122517600_llac023-B13","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/9691","article-title":"Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome","volume":"22","author":"Houten","year":"1999","journal-title":"Nat Genet"},{"key":"2023100307122517600_llac023-B14","doi-asserted-by":"crossref","first-page":"883811","DOI":"10.3389\/fimmu.2022.883811","article-title":"Case Report: comorbid hyper-IgD syndrome and hidradenitis suppurativa \u2212 a new syndromic form of HS? A report of two cases","volume":"13","author":"Guillem","year":"2022","journal-title":"Front Immunol"},{"key":"2023100307122517600_llac023-B15","doi-asserted-by":"crossref","first-page":"13030","DOI":"10.5070\/D3257044804","article-title":"An unusual spiculated presentation of follicular porokeratosis","volume":"25","author":"Young","year":"2019","journal-title":"Dermatol Online J"},{"key":"2023100307122517600_llac023-B16","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":"2023100307122517600_llac023-B17","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":"Witte-Handel","year":"2019","journal-title":"J Invest Dermatol"}],"container-title":["Clinical and Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ced\/advance-article-pdf\/doi\/10.1093\/ced\/llac023\/48446292\/llac023.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ced\/article-pdf\/48\/2\/161\/51826365\/llac023.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ced\/article-pdf\/48\/2\/161\/51826365\/llac023.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T03:12:36Z","timestamp":1696302756000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ced\/article\/48\/2\/161\/6776165"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,28]]},"references-count":17,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,10,28]]},"published-print":{"date-parts":[[2023,2,2]]}},"URL":"https:\/\/doi.org\/10.1093\/ced\/llac023","relation":{},"ISSN":["0307-6938","1365-2230"],"issn-type":[{"value":"0307-6938","type":"print"},{"value":"1365-2230","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,2]]},"published":{"date-parts":[[2022,10,28]]}}}