{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T06:09:27Z","timestamp":1778134167167,"version":"3.51.4"},"reference-count":13,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatology"],"published-print":{"date-parts":[[2015]]},"abstract":"<b><i>Background:<\/i><\/b> Xeroderma pigmentosum (XP) is a genodermatosis caused by abnormal DNA repair. XP complementation group C (XPC) is the most frequent type in Mediterranean countries. We describe a case with a novel mutation in the <i>XPC<\/i> gene. <b><i>Case:<\/i><\/b> A healthy Caucasian male patient was diagnosed with multiple primary melanomas. Digital follow-up and molecular studies were carried out. <b><i>Results:<\/i><\/b> During digital follow-up 8 more additional melanomas were diagnosed. Molecular studies did not identify mutations in <i>CDKN2A<\/i>, <i>CDK4<\/i> or <i>MITF<\/i> genes. Two heterozygous mutations in the <i>XPC<\/i> gene were detected: c.2287delC (p.Leu763Cysfs*4) frameshift and c.2212A>G (p.Thr738Ala) missense mutations. <b><i>Conclusion:<\/i><\/b> The p.Thr738Ala missense mutation has not been previously described. Missense mutations in the <i>XPC<\/i> gene may allow partial functionality that could explain this unusual late onset XP. Atypical clinical presentation of XPC could be misdiagnosed when genetic aberrations allow partial DNA repair capacity.<\/jats:p>","DOI":"10.1159\/000433527","type":"journal-article","created":{"date-parts":[[2015,8,4]],"date-time":"2015-08-04T21:03:40Z","timestamp":1438722220000},"page":"217-221","source":"Crossref","is-referenced-by-count":5,"title":["Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the <b><i>XPC<\/i><\/b> Gene: The Importance of Clinical Suspicion"],"prefix":"10.1159","volume":"231","author":[{"given":"Marina","family":"Meneses","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6081-6736","authenticated-orcid":false,"given":"Marion","family":"Chavez-Bourgeois","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Celia","family":"Badenas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvador","family":"Villablanca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula","family":"Aguilera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antoni","family":"Benn\u00e0ssar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Llucia","family":"Alos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susana","family":"Puig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josep","family":"Malvehy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Carrera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2015,8,5]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-70"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12523"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.083022"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1186\/2051-5960-1-4"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2004.06332.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2010.430"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8019.2012.01499.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2005.08.034"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/ng1293-413"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s00105-012-2395-y"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2008.08791.x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12678"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13373"}],"container-title":["Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/433527","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/433527","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/433527","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:15:08Z","timestamp":1745432108000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000433527"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":13,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2015,9,1]]},"published-print":{"date-parts":[[2015,9,17]]}},"URL":"https:\/\/doi.org\/10.1159\/000433527","archive":["Portico"],"relation":{},"ISSN":["1018-8665","1421-9832"],"issn-type":[{"value":"1018-8665","type":"print"},{"value":"1421-9832","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}