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The father and both children shared a mild-to-moderate hidradenitis suppurativa phenotype together with the features of follicular occlusion (e.g. acne and scalp folliculitis). Based on our findings and previous literature, we recommend considering genetic testing with a periodic fever\/autoinflammatory disorder panel in patients with a strong family history of hidradenitis suppurativa and lack of common triggers such as smoking and being overweight. <\/jats:p>","DOI":"10.1177\/2050313x20953113","type":"journal-article","created":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T07:06:07Z","timestamp":1601017567000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":16,"title":["Novel variants of <i>MEFV<\/i> and <i>NOD2<\/i> genes in familial hidradenitis suppurativa: A case report"],"prefix":"10.1177","volume":"8","author":[{"given":"Abdulhadi","family":"Jfri","sequence":"first","affiliation":[{"name":"Division of Dermatology, McGill University Health Centre, Montreal General Hospital, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan V","family":"Litvinov","sequence":"additional","affiliation":[{"name":"Division of Dermatology, McGill University Health Centre, Montreal General Hospital, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Netchiporouk","sequence":"additional","affiliation":[{"name":"Division of Dermatology, McGill University Health Centre, Montreal General Hospital, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3580-5952","authenticated-orcid":false,"given":"Elizabeth","family":"O\u2019Brien","sequence":"additional","affiliation":[{"name":"Division of Dermatology, McGill University Health Centre, Montreal General Hospital, Montreal, QC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2020,9,25]]},"reference":[{"key":"bibr1-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2019.06.001"},{"key":"bibr2-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2015.07.052"},{"key":"bibr3-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2015.08.002"},{"key":"bibr4-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(96)90277-7"},{"key":"bibr5-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.10034.x"},{"key":"bibr6-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1177\/1203475419852049"},{"key":"bibr7-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/93.4.217"},{"key":"bibr8-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200658"},{"key":"bibr9-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01785.x"},{"key":"bibr10-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200776"},{"key":"bibr11-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0602081103"},{"key":"bibr12-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20129"},{"key":"bibr13-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.16183"},{"key":"bibr14-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.17695"},{"key":"bibr15-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.13503"},{"key":"bibr16-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbspin.2016.02.021"},{"key":"bibr17-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2017.04.024"},{"key":"bibr18-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1016\/j.semarthrit.2012.12.005"},{"key":"bibr19-2050313X20953113","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-015-0177-x"}],"container-title":["SAGE Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X20953113","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X20953113","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X20953113","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,2]],"date-time":"2025-03-02T10:12:45Z","timestamp":1740910365000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X20953113"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1]]},"references-count":19,"alternative-id":["10.1177\/2050313X20953113"],"URL":"https:\/\/doi.org\/10.1177\/2050313x20953113","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"value":"2050-313X","type":"print"},{"value":"2050-313X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1]]},"article-number":"2050313X20953113"}}