{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T14:55:54Z","timestamp":1761058554382},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,10,11]],"date-time":"2006-10-11T00:00:00Z","timestamp":1160524800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Aust J Dermatology"],"published-print":{"date-parts":[[2006,11]]},"abstract":"<jats:title>SUMMARY<\/jats:title><jats:p>A 65\u2010year\u2010old man presented with a history of multiple skin coloured papules on his face that were asymptomatic. He had an adenocarcinoma resected from his proximal colon 12\u2003years prior to presentation as well as a family history of colon cancer on the maternal side. Diagnostic biopsies showed the lesions to be sebaceous adenomas and epitheliomas and the diagnosis of Muir\u2013Torre syndrome was made. The sebaceous tumour tissue showed microsatellite instability and immunohistochemical staining indicated diminished expression in the DNA mismatch\u2013repair protein complex MSH2\/MSH6. Genetic analysis showed a germline mutation in the <jats:italic>MSH2<\/jats:italic> gene confirming the diagnosis of Muir\u2013Torre syndrome. The patient and his first\u2010degree relatives have been referred for genetic counselling and screening. We review the diagnostic criteria in this syndrome and review the recommended screening guidelines.<\/jats:p>","DOI":"10.1111\/j.1440-0960.2006.00292.x","type":"journal-article","created":{"date-parts":[[2006,10,11]],"date-time":"2006-10-11T14:38:16Z","timestamp":1160577496000},"page":"266-269","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Muir\u2013Torre syndrome: Diagnostic and screening guidelines"],"prefix":"10.1111","volume":"47","author":[{"given":"Brad","family":"Jones","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol","family":"Oh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Mangold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Conleth A","family":"Egan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,10,11]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580201.x"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(95)90017-9"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0733-8635(18)30110-4"},{"key":"e_1_2_5_5_2","first-page":"178","article-title":"Muir\u2013Torre syndrome","volume":"46","author":"Coldron J","year":"2001","journal-title":"J. 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