{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T16:41:41Z","timestamp":1786552901990,"version":"build-2736575974"},"reference-count":15,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T00:00:00Z","timestamp":1783641600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T00:00:00Z","timestamp":1783641600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Dermatol"],"abstract":"<jats:p>Introduction: Xeroderma pigmentosum (XP) is a group of genodermatoses with autosomal recessive inheritance, comprising 9 subtypes designated A to J plus a variant (V) type, clinically characterized by increased photosensitivity, with specific subtypes more prone to ocular disease and progressive neurodegeneration. Case presentation: Three patients with the XP-V variant, a pair of sisters and an unrelated individual, presented with a novel homozygous c.1245-1G&gt;A intronic splice site variant in the POLH gene classified as likely pathogenic. They exhibited numerous freckles and hypo- and hyperpigmented lesions that evolved into basal cell and squamous cell carcinomas, as well as thin malignant melanocytic lesions, photophobia, conjunctival telangiectasis, ectropion, and pterygia, without neurological symptoms. Conclusion: The possibility of dealing with a new founder effect for this specific variant in the State of Minas Gerais, in the Southeast region of Brazil, is suggested.<\/jats:p>","DOI":"10.1159\/000553414","type":"journal-article","created":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T16:01:08Z","timestamp":1783699268000},"page":"500-507","source":"Crossref","is-referenced-by-count":0,"title":["Novel Variant and a Possible New Founder Effect for Xeroderma Pigmentosum Variant Type in Southeast Brazil: Case Report"],"prefix":"10.1159","volume":"18","author":[{"given":"Leonardo \u00c1vila","family":"Ferreira","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6508-8571","authenticated-orcid":false,"given":"Mara Sanches","family":"Guaragna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Steiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Let\u00edcia","family":"Cintra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliane Maria Ingrid","family":"Amstalden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2026,7,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI195731"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI195732"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.7573\/dic.2022-2-5"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.7453\/gahmj.2013.008"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2022.821582"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-023-00549-6"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.16405"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.784963"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.15084"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1491"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.oooo.2021.03.013"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.48"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12538913"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.083022"}],"container-title":["Case Reports in Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000553414","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T16:00:38Z","timestamp":1786550438000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000553414"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,10]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000553414","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.32956766","asserted-by":"subject"}]},"ISSN":["1662-6567"],"issn-type":[{"value":"1662-6567","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,10]]}}}