{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T07:30:05Z","timestamp":1767771005547},"reference-count":14,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2015,6,16]],"date-time":"2015-06-16T00:00:00Z","timestamp":1434412800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Cancer Center Research and Development Fund","award":["26-A-4"],"award-info":[{"award-number":["26-A-4"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Muir\u2013Torre syndrome (<jats:styled-content style=\"fixed-case\">MTS<\/jats:styled-content>) is a familial cancer syndrome characterized by a predisposition to keratoacanthoma (<jats:styled-content style=\"fixed-case\">KA<\/jats:styled-content>) and sebaceous tumors. Although <jats:styled-content style=\"fixed-case\">MTS<\/jats:styled-content> and hereditary non\u2010polyposis colorectal cancer (<jats:styled-content style=\"fixed-case\">HNPCC<\/jats:styled-content>) share\u00a0the same genetic alterations in mismatch repair (<jats:styled-content style=\"fixed-case\">MMR<\/jats:styled-content>) genes, the other skin lesions in <jats:styled-content style=\"fixed-case\">MTS<\/jats:styled-content> or <jats:styled-content style=\"fixed-case\">HNPCC<\/jats:styled-content>\u00a0have been only rarely reported. We report a family with an <jats:italic><jats:styled-content style=\"fixed-case\">MSH<\/jats:styled-content>2<\/jats:italic> mutation c.1126_1127del<jats:styled-content style=\"fixed-case\">TT<\/jats:styled-content> (p.Leu376Thrfs*12). A 46\u2010year\u2010old male proband developed <jats:styled-content style=\"fixed-case\">KA<\/jats:styled-content> with sebaceous differentiation, colon cancer and gastric cancer, and fulfilled the diagnostic criteria for <jats:styled-content style=\"fixed-case\">MTS<\/jats:styled-content>. His 80\u2010year\u2010old mother, diagnosed with <jats:styled-content style=\"fixed-case\">HNPCC<\/jats:styled-content>, presented with multiple gastrointestinal tract cancers, Bowen's disease and actinic keratosis. Immunostaining revealed attenuated <jats:styled-content style=\"fixed-case\">MSH<\/jats:styled-content>2 protein expression in <jats:styled-content style=\"fixed-case\">KA<\/jats:styled-content>, as well as in Bowen's disease and actinic keratosis lesions. These findings suggest that <jats:styled-content style=\"fixed-case\">MMR<\/jats:styled-content> gene abnormality is also critical in the development of benign or malignant cutaneous tumors such as actinic keratosis and Bowen's disease in <jats:styled-content style=\"fixed-case\">MTS<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">HNPCC<\/jats:styled-content> patients.<\/jats:p>","DOI":"10.1111\/1346-8138.12949","type":"journal-article","created":{"date-parts":[[2015,6,16]],"date-time":"2015-06-16T07:25:01Z","timestamp":1434439501000},"page":"1087-1090","source":"Crossref","is-referenced-by-count":13,"title":["Family with <i><scp>MSH<\/scp>2<\/i> mutation presenting with keratoacanthoma and precancerous skin lesions"],"prefix":"10.1111","volume":"42","author":[{"given":"Naohito","family":"Hatta","sequence":"first","affiliation":[{"name":"Department of Dermatology Toyama Prefectural Central Hospital Toyama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akiko","family":"Takata","sequence":"additional","affiliation":[{"name":"Department of Dermatology Toyama Prefectural Central Hospital Toyama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shin","family":"Ishizawa","sequence":"additional","affiliation":[{"name":"Department of Pathology Toyama Prefectural Central Hospital Toyama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yo","family":"Niida","sequence":"additional","affiliation":[{"name":"Division of Genomic Medicine Medical Research Institute Kanazawa Medical University Kanazawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,6,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(95)90017-9"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra012242"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(99)70510-X"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djm291"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.20873"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12125.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-200203000-00007"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0b013e3182226a28"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1999.00788.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2000.03789.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"crossref","first-page":"75","DOI":"10.2340\/00015555767577","article-title":"A possible role of interleukin\u20108 in the induction of psoriasis\u2010like lesions in Torre\u2010Muir syndrome","volume":"76","author":"Yamamoto T","year":"1996","journal-title":"Acta Derm Venereol"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.dad.0000185146.83799.24"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.06506.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000228830"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.12949","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.12949","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T14:48:14Z","timestamp":1695566894000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.12949"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,16]]},"references-count":14,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["10.1111\/1346-8138.12949"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.12949","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,16]]}}}