{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:04:32Z","timestamp":1777727072483,"version":"3.51.4"},"reference-count":54,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"This project is supported by Hainan Province Clinical Medical Center"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Xeroderma pigmentosum is a rare autosomal recessive genetic disorder characterized by hypersensitivity to ultraviolet radiation and increased risk of skin cancer. Impaired DNA repair mechanisms are considered to be involved in the occurrence and development of this distinct disorder. We present the case of a 48-year-old Chinese woman with facial and chest tumors; these lesions had been rapidly growing over the past 6 months. Pathological biopsy and immunohistology indicated malignant melanoma in facial and chest tumors and squamous cell carcinoma in chest tumors. Using whole-exome sequencing, a site mutation c.2218_2220del (p.Glu)740del in the XPC gene was confirmed. To treat the infection and skin carcinoma, antibiotics and plastic surgery were employed. The identified\n                    <jats:italic toggle=\"yes\">XPC<\/jats:italic>\n                    variant has not been previously reported in Chinese or global populations, expanding the mutational spectrum of this gene and providing valuable data for genetic counseling of affected families.\n                  <\/jats:p>","DOI":"10.1177\/03000605261416735","type":"journal-article","created":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T10:33:32Z","timestamp":1769855612000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Xeroderma pigmentosum with multiple skin carcinoma and a homogenous\n                    <i>XPC<\/i>\n                    mutation: A case report from China and literature review"],"prefix":"10.1177","volume":"54","author":[{"given":"Feng","family":"Gao","sequence":"first","affiliation":[{"name":"Department of Plastic and Dermatological Surgery, Affiliated Dermatology Hospital of Hainan Medical University, China"},{"name":"Department of Plastic and Dermatologic Surgery, the Fifth People\u2019s Hospital of Hainan Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruiye","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Plastic and Dermatological Surgery, Affiliated Dermatology Hospital of Hainan Medical University, China"},{"name":"Department of Plastic and Dermatologic Surgery, the Fifth People\u2019s Hospital of Hainan Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Plastic and Dermatological Surgery, Affiliated Dermatology Hospital of Hainan Medical University, China"},{"name":"Department of Plastic and Dermatologic Surgery, the Fifth People\u2019s Hospital of Hainan Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ziyu","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Plastic and Dermatologic Surgery, the Fifth People\u2019s Hospital of Hainan Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology, the Fifth People\u2019s Hospital of Hainan Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5029-6936","authenticated-orcid":false,"given":"Weiwei","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Plastic and Dermatological Surgery, Affiliated Dermatology Hospital of Hainan Medical University, China"},{"name":"Department of Plastic and Dermatologic Surgery, the Fifth People\u2019s Hospital of Hainan Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Plastic and Dermatological Surgery, Affiliated Dermatology Hospital of Hainan Medical University, China"},{"name":"Department of Plastic and Dermatologic Surgery, the Fifth People\u2019s Hospital of Hainan Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,1,31]]},"reference":[{"key":"e_1_3_10_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/exd.13082"},{"key":"e_1_3_10_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13429"},{"key":"e_1_3_10_4_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.784963"},{"key":"e_1_3_10_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12038-021-00170-6"},{"key":"e_1_3_10_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20392"},{"key":"e_1_3_10_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.12.061"},{"key":"e_1_3_10_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.13333"},{"key":"e_1_3_10_9_2","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000000330"},{"key":"e_1_3_10_10_2","doi-asserted-by":"publisher","DOI":"10.1186\/1746-1596-9-120"},{"key":"e_1_3_10_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrgentox.2016.10.004"},{"key":"e_1_3_10_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-030-46227-7_16"},{"key":"e_1_3_10_13_2","doi-asserted-by":"publisher","DOI":"10.1080\/15287394.2015.1104271"},{"key":"e_1_3_10_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/chem.201602438"},{"key":"e_1_3_10_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2007.10.027"},{"key":"e_1_3_10_16_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1524-4725.1997.tb00084.x"},{"key":"e_1_3_10_17_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00495"},{"key":"e_1_3_10_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2017.10.015"},{"key":"e_1_3_10_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.14340"},{"key":"e_1_3_10_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)32776-5"},{"key":"e_1_3_10_21_2","first-page":"217","article-title":"A ninth complementation group in xeroderma pigmentosum, XP I","volume":"145","author":"Fischer E","year":"1985","unstructured":"Fischer E, Keijzer W, Thielmann HW, et\u00a0al. A ninth complementation group in xeroderma pigmentosum, XP I. Mutat Res 1985; 145: 217\u2013225.","journal-title":"Mutat Res"},{"key":"e_1_3_10_22_2","first-page":"181","article-title":"Prenatal exclusion of xeroderma pigmentosum (XP-D) by amniotic cell analysis","volume":"2","author":"Arase S","year":"1985","unstructured":"Arase S, Bohnert E, Fischer E, et\u00a0al. Prenatal exclusion of xeroderma pigmentosum (XP-D) by amniotic cell analysis. Photodermatol 1985; 2: 181\u2013183.","journal-title":"Photodermatol"},{"key":"e_1_3_10_23_2","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/6.4.555"},{"key":"e_1_3_10_24_2","doi-asserted-by":"publisher","DOI":"10.1155\/2022\/8549532"},{"key":"e_1_3_10_25_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes12081173"},{"key":"e_1_3_10_26_2","doi-asserted-by":"publisher","DOI":"10.7573\/dic.2022-2-5"},{"key":"e_1_3_10_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1357-4310(98)01394-X"},{"key":"e_1_3_10_28_2","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2687"},{"key":"e_1_3_10_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2011.03.001"},{"key":"e_1_3_10_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2017.04.031"},{"key":"e_1_3_10_31_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0616-2"},{"key":"e_1_3_10_32_2","doi-asserted-by":"publisher","DOI":"10.1111\/bph.14557"},{"key":"e_1_3_10_33_2","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12332692"},{"key":"e_1_3_10_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2017.08.046"},{"key":"e_1_3_10_35_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00406246"},{"key":"e_1_3_10_36_2","doi-asserted-by":"publisher","DOI":"10.1111\/phpp.12108"},{"key":"e_1_3_10_37_2","doi-asserted-by":"publisher","DOI":"10.1158\/1940-6207.CAPR-09-0044"},{"key":"e_1_3_10_38_2","doi-asserted-by":"publisher","DOI":"10.3390\/nu10111644"},{"key":"e_1_3_10_39_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1751-1097.2007.00217.x"},{"key":"e_1_3_10_40_2","doi-asserted-by":"publisher","DOI":"10.4103\/ijd.ijd_329_21"},{"key":"e_1_3_10_41_2","doi-asserted-by":"publisher","DOI":"10.2147\/CCID.S348771"},{"key":"e_1_3_10_42_2","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3180306880"},{"key":"e_1_3_10_43_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12070-012-0614-6"},{"key":"e_1_3_10_44_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pdpdt.2020.101774"},{"key":"e_1_3_10_45_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.oftal.2017.06.016"},{"key":"e_1_3_10_46_2","doi-asserted-by":"publisher","DOI":"10.1080\/14740338.2017.1382472"},{"key":"e_1_3_10_47_2","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.654463"},{"key":"e_1_3_10_48_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(21)01206-X"},{"key":"e_1_3_10_49_2","doi-asserted-by":"publisher","DOI":"10.2217\/fon.15.297"},{"key":"e_1_3_10_50_2","doi-asserted-by":"publisher","DOI":"10.2217\/fon.14.89"},{"key":"e_1_3_10_51_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21082956"},{"key":"e_1_3_10_52_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.18.00794"},{"key":"e_1_3_10_53_2","first-page":"1974","article-title":"Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels","volume":"60","author":"Chavanne F","year":"2000","unstructured":"Chavanne F, Broughton BC, Pietra D, et\u00a0al. Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. Cancer Res 2000; 60: 1974\u20131982.","journal-title":"Cancer Res"},{"key":"e_1_3_10_54_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi061370o"},{"key":"e_1_3_10_55_2","doi-asserted-by":"publisher","DOI":"10.1111\/head.12246"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605261416735","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/03000605261416735","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605261416735","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:48:33Z","timestamp":1777459713000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/03000605261416735"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":54,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1177\/03000605261416735"],"URL":"https:\/\/doi.org\/10.1177\/03000605261416735","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"article-number":"03000605261416735"}}