{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T12:34:54Z","timestamp":1784637294080,"version":"3.55.0"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,5,7]],"date-time":"2013-05-07T00:00:00Z","timestamp":1367884800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Photoderm Photoimm Photomed"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Xeroderma pigmentosum (<jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>) is a photosensitive genodermatosis with increased susceptibility to skin cancers. Patients are typically diagnosed with <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> when they consult a dermatologist for skin cancers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case\/Methods<\/jats:title><jats:p>The genetic analysis and 2\u20138 years of follow\u2010up for three school\u2010age patients with <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">V<\/jats:styled-content> is described. The patients were referred to us because of increased pigmented freckles; they had not experienced abnormal sunburn or developed skin cancer at their first visit. All patients harbored a genetic mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">POLH<\/jats:styled-content><\/jats:italic> gene. <jats:styled-content style=\"fixed-case\">XPV9KO<\/jats:styled-content> was diagnosed at age 13 with a homozygous del1661<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content> that creates a stop codon in the non\u2010catalytic domain of <jats:italic><jats:styled-content style=\"fixed-case\">POLH<\/jats:styled-content><\/jats:italic>. The patient practiced sun protection, effectively preventing the development of skin cancer by age 21. <jats:styled-content style=\"fixed-case\">XPV19KO<\/jats:styled-content> was diagnosed at age 11 with a compound heterozygous mutation of <jats:styled-content style=\"fixed-case\">G490T<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">C1066T<\/jats:styled-content>, causing <jats:styled-content style=\"fixed-case\">POLH<\/jats:styled-content> truncation in the catalytic domain. This patient developed basal cell carcinoma at ages 12 and 13. <jats:styled-content style=\"fixed-case\">XPV18KO<\/jats:styled-content> was referred to us at age 11 and diagnosed with compound heterozygous variants of c.1246_1311del66 (exon 9 skipping), a novel mutation, and c.661_764 del104 (exon 6 skipping).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Freckle\u2010like pigmentation on sun\u2010exposed skin is sometimes the only sign of <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">V<\/jats:styled-content>, and early diagnosis is extremely important for children.<\/jats:p><\/jats:sec>","DOI":"10.1111\/phpp.12038","type":"journal-article","created":{"date-parts":[[2013,5,14]],"date-time":"2013-05-14T10:05:36Z","timestamp":1368525936000},"page":"132-139","source":"Crossref","is-referenced-by-count":10,"title":["Three school\u2010age cases of xeroderma pigmentosum variant type"],"prefix":"10.1111","volume":"29","author":[{"given":"Ryusuke","family":"Ono","sequence":"first","affiliation":[{"name":"Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taro","family":"Masaki","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiji","family":"Takeuchi","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayako","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Dermatology, Chiba University Hospital Department of Dermatology Chiba University Graduate School of Medicine  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miki","family":"Tanioka","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine  Kobe Japan"},{"name":"Department of Dermatology Kyoto University Graduate School of Medicine  Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naotomo","family":"Kambe","sequence":"additional","affiliation":[{"name":"Dermatology, Chiba University Hospital Department of Dermatology Chiba University Graduate School of Medicine  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Matsue","sequence":"additional","affiliation":[{"name":"Dermatology, Chiba University Hospital Department of Dermatology Chiba University Graduate School of Medicine  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryoichi","family":"Kamide","sequence":"additional","affiliation":[{"name":"Department of Dermatology Daisan Hospital, The Jikei University School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chikako","family":"Nishigori","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,5,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/21447"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.022473899"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrfmmm.2006.06.010"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2008.01.014"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2008.07.001"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700759"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.17.7155"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0625.2003.00124.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.48"}],"container-title":["Photodermatology, Photoimmunology &amp; Photomedicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fphpp.12038","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/phpp.12038","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T04:19:07Z","timestamp":1697257147000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/phpp.12038"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,7]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["10.1111\/phpp.12038"],"URL":"https:\/\/doi.org\/10.1111\/phpp.12038","archive":["Portico"],"relation":{},"ISSN":["0905-4383","1600-0781"],"issn-type":[{"value":"0905-4383","type":"print"},{"value":"1600-0781","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,7]]}}}