{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T02:01:09Z","timestamp":1780624869419,"version":"3.54.1"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T00:00:00Z","timestamp":1617062400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T00:00:00Z","timestamp":1617062400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Xeroderma pigmentosum is a rare, autosomal-recessive photosensitive dermatosis. Patients with xeroderma pigmentosum have an impaired ability to repair deoxyribonucleic acid damage caused by ultraviolet rays, resulting in skin cancer. Patients with xeroderma pigmentosum are more susceptible to some cancers. We herein report a case of xeroderma pigmentosum accompanied by lung cancer.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>The patient was a Japanese woman in her 70s with a family history of consanguineous marriage. Her medical history included squamous cell carcinoma and basal cell carcinoma, in addition to xeroderma pigmentosum. She presented with dry skin with small, pigmented spots, which were particularly focused around the areas exposed to sunlight. Chest computed tomography was conducted to assess for any evidence of metastatic skin carcinoma, and revealed a tumor in the left upper subpleural lobe of the lung. Consequently, she was referred to our department. Finally, we diagnosed lung adenocarcinoma (pT2aN0M1b: stage IVA). She had an epidermal growth factor receptor (EGFR) mutation (p.L858R). Treatment with an epidermal growth factor receptor tyrosine kinase inhibitor (gefitinib) was initiated, and the tumor gradually regressed. No side effects were observed. However, she later died from aspiration pneumonia.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Although xeroderma pigmentosum is rare, a history of consanguineous marriage should be verified. Because of the severe side effects of cisplatin and radiotherapy in xeroderma pigmentosum patients, the risks and benefits of treatment should be considered thoroughly.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-021-02754-0","type":"journal-article","created":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T23:06:32Z","timestamp":1617059192000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Lung adenocarcinoma concomitant with xeroderma pigmentosum: a case report"],"prefix":"10.1186","volume":"15","author":[{"given":"Masataka","family":"Matsumoto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazumi","family":"Kaneshiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyonobu","family":"Takatsuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,3,30]]},"reference":[{"key":"2754_CR1","doi-asserted-by":"publisher","first-page":"1087","DOI":"10.1111\/1346-8138.13907","volume":"44","author":"S Moriwaki","year":"2017","unstructured":"Moriwaki S, Kanda F, Hayashi M, et\u00a0al. Xeroderma pigmentosum clinical practice guidelines. J Dermatol. 2017;44:1087\u201396.","journal-title":"J Dermatol."},{"key":"2754_CR2","first-page":"187","volume":"74","author":"NK Devaraj","year":"2019","unstructured":"Devaraj NK, Aneesa AR, Abdul Hadi AM, et\u00a0al. Topical corticosteroids in clinical practice. Med J Malaysia. 2019;74:187\u20139.","journal-title":"Med J Malaysia."},{"key":"2754_CR3","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2018-2283554","author":"NK Devaraj","year":"2019","unstructured":"Devaraj NK. A recurrent cutaneous eruption. BMJ Case Rep. 2019. https:\/\/doi.org\/10.1136\/bcr-2018-2283554.","journal-title":"BMJ Case Rep"},{"key":"2754_CR4","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1159\/000247536","volume":"184","author":"A Mamada","year":"1992","unstructured":"Mamada A, Miura K, Tsunoda K, et\u00a0al. Xeroderma pigmentosum variant associated with multiple skin cancers and a lung cancer. Dermatology. 1992;184:177\u201381.","journal-title":"Dermatology."},{"key":"2754_CR5","volume-title":"Medical genetics","author":"Z Ogita","year":"1991","unstructured":"Ogita Z. Medical genetics. Tokyo: Nankodou; 1991."},{"key":"2754_CR6","volume-title":"Guidelines for Diagnosis and Treatment of the Lung Cancer 2016","author":"N Yamamoto","year":"2016","unstructured":"Yamamoto N. Guidelines for Diagnosis and Treatment of the Lung Cancer 2016. Tokyo: The Japan Lung Cancer Society; 2016."},{"key":"2754_CR7","doi-asserted-by":"publisher","first-page":"4721","DOI":"10.1038\/sj.onc.1203842","volume":"19","author":"M Yuasa","year":"2000","unstructured":"Yuasa M, Masutani C, Eki T, et\u00a0al. Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene. Oncogene. 2000;19:4721\u20138.","journal-title":"Oncogene."},{"key":"2754_CR8","first-page":"237","volume":"65","author":"C Nishigori","year":"2016","unstructured":"Nishigori C. Present state of xeroderma pigmentosum and its coping method. J New Rem Clin. 2016;65:237\u201342.","journal-title":"J New Rem Clin."},{"key":"2754_CR9","first-page":"697","volume":"71","author":"C Bianchi","year":"1979","unstructured":"Bianchi C, Giammusso V, Berti N, et\u00a0al. Medulloblastoma in a patient with xeroderma pigmentosum. Pathologica. 1979;71:697\u2013701.","journal-title":"Pathologica"},{"key":"2754_CR10","first-page":"760","volume":"19","author":"Y Fujii","year":"1979","unstructured":"Fujii Y, Imaoka K, Yorita T, et\u00a0al. A case of xeroderma pigmentosum with anaplastic astrocytoma (author\u2019s transl). Rinsho Shinkeigaku. 1979;19:760\u20135.","journal-title":"Rinsho Shinkeigaku"},{"key":"2754_CR11","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1177\/120347549800200308","volume":"2","author":"JJ DiGiovanna","year":"1998","unstructured":"DiGiovanna JJ, Patronas N, Katz D, et\u00a0al. Xeroderma pigmentosum: spinal cord astrocytoma with 9-year survival after radiation and isotretinoin therapy. J Cutan Med Surg. 1998;2:153\u20138.","journal-title":"J Cutan Med Surg."},{"key":"2754_CR12","first-page":"354","volume":"86","author":"K Okabayashi","year":"1991","unstructured":"Okabayashi K. A case of Xeroderma pigmentosum (variant type) combined endometrial and breast cancer. Hifuka Kiyo. 1991;86:354.","journal-title":"Hifuka Kiyo"},{"key":"2754_CR13","first-page":"357","volume":"168","author":"JA Maradona Hidalgo","year":"1983","unstructured":"Maradona Hidalgo JA, Alvarez Alvarez C, Fernandez Rippe ML, et\u00a0al. Sarcoidosis, pancreatic adenocarcinoma and granulomas of undetermined origin in a patient with xeroderma pigmentosum. Rev Clin Esp. 1983;168:357\u201360.","journal-title":"Rev Clin Esp."},{"key":"2754_CR14","doi-asserted-by":"publisher","first-page":"632","DOI":"10.1111\/j.1365-2133.1985.tb02394.x","volume":"113","author":"L Puig","year":"1985","unstructured":"Puig L, Marti R, Matias-Guiu X, et\u00a0al. Gastric adenocarcinoma in a patient with xeroderma pigmentosum. Br J Dermatol. 1985;113:632\u20133.","journal-title":"Br J Dermatol."},{"key":"2754_CR15","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.arcped.2015.09.024","volume":"23","author":"F Lahlimi","year":"2016","unstructured":"Lahlimi F, Harif M, Elhoudzi J. Nephroblastoma and xeroderma pigmentosum: a rare association. Arch Pediatr. 2016;23:75\u20137.","journal-title":"Arch Pediatr."},{"key":"2754_CR16","first-page":"484","volume":"42","author":"M Tomas","year":"1989","unstructured":"Tomas M, Salinas AS, Moreno J, et\u00a0al. Renal leiomyosarcoma associated with xeroderma pigmentosum. Arch Esp Urol. 1989;42:484\u20136.","journal-title":"Arch Esp Urol."},{"key":"2754_CR17","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1111\/j.1440-0960.1973.tb00014.x","volume":"14","author":"K Georgouras","year":"1973","unstructured":"Georgouras K. Report of a case of xeroderma pigmentosum. Australas J Dermatol. 1973;14:39\u201346.","journal-title":"Australas J Dermatol."},{"key":"2754_CR18","doi-asserted-by":"publisher","first-page":"e42","DOI":"10.1111\/jdv.13288","volume":"30","author":"S Pintens","year":"2016","unstructured":"Pintens S, Pierret L, Keymolen K, et\u00a0al. Xeroderma pigmentosum and leukaemia in two sisters. J Eur Acad Dermatol Venereol. 2016;30:e42\u20133.","journal-title":"J Eur Acad Dermatol Venereol."},{"key":"2754_CR19","doi-asserted-by":"publisher","first-page":"e0158858","DOI":"10.1371\/journal.pone.0158858","volume":"11","author":"N Holcomb","year":"2016","unstructured":"Holcomb N, Goswami M, Han SG, et\u00a0al. Exposure of human lung cells to tobacco smoke condensate inhibits the nucleotide excision repair pathway. PLoS ONE. 2016;11:e0158858.","journal-title":"PLoS ONE"},{"key":"2754_CR20","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1002\/kjm2.12007","volume":"35","author":"L Wang","year":"2019","unstructured":"Wang L, Wang LL, Shang D, et\u00a0al. Gene polymorphism of DNA repair gene X-ray repair cross complementing group 1 and xeroderma pigmentosum group D and environment interaction in non-small-cell lung cancer for Chinese nonsmoking female patients. Kaohsiung J Med Sci. 2019;35:39\u201348.","journal-title":"Kaohsiung J Med Sci."},{"key":"2754_CR21","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1056\/NEJMoa1612674","volume":"376","author":"TS Mok","year":"2017","unstructured":"Mok TS, Wu YL, Ahn MJ, et\u00a0al. Osimertinib or platinum\u2013pemetrexed in EGFR T790M-positive lung cancer. N Engl J Med. 2017;376:629\u201340.","journal-title":"N Engl J Med."},{"key":"2754_CR22","doi-asserted-by":"publisher","first-page":"979","DOI":"10.2169\/internalmedicine.56.7866","volume":"56","author":"M Sumiyoshi","year":"2017","unstructured":"Sumiyoshi M, Soda H, Sadanaga N, et\u00a0al. Alert regarding cisplatin-induced severe adverse events in cancer patients with xeroderma pigmentosum. Intern Med. 2017;56:979\u201382.","journal-title":"Intern Med."},{"key":"2754_CR23","doi-asserted-by":"publisher","first-page":"4411","DOI":"10.1073\/pnas.1421365112","volume":"112","author":"AK Srivastava","year":"2015","unstructured":"Srivastava AK, Han C, Zhao R, et\u00a0al. Enhanced expression of DNA polymerase eta contributes to cisplatin resistance of ovarian cancer stem cells. Proc Natl Acad Sci U S A. 2015;112:4411\u20136.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2754_CR24","first-page":"5874","volume":"9","author":"X Wu","year":"2003","unstructured":"Wu X, Fan W, Xu S, et\u00a0al. Sensitization to the cytotoxicity of cisplatin by transfection with nucleotide excision repair gene xeroderma pigmentosun group A antisense RNA in human lung adenocarcinoma cells. Clin Cancer Res. 2003;9:5874\u20139.","journal-title":"Clin Cancer Res."},{"key":"2754_CR25","doi-asserted-by":"publisher","first-page":"9799","DOI":"10.1158\/0008-5472.CAN-05-1095","volume":"65","author":"MR Albertella","year":"2005","unstructured":"Albertella MR, Green CM, Lehmann AR, et\u00a0al. A role for polymerase eta in the cellular tolerance to cisplatin-induced damage. Cancer Res. 2005;65:9799\u2013806.","journal-title":"Cancer Res."},{"key":"2754_CR26","first-page":"5","volume":"125","author":"T Tsuchida","year":"2015","unstructured":"Tsuchida T, Koga H, Uhara H, et\u00a0al. Skin malignant tumor medical treatment guideline 2nd edition. Jpn J Dermatol. 2015;125:5\u201375.","journal-title":"Jpn J. Dermatol."}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-02754-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13256-021-02754-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-02754-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T23:57:31Z","timestamp":1617062251000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-021-02754-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,30]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["2754"],"URL":"https:\/\/doi.org\/10.1186\/s13256-021-02754-0","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,30]]},"assertion":[{"value":"25 January 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 February 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 March 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Single anonymous case reports are exempt from ethical approval at our institution.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient for the publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"160"}}