{"title":"从表面看:缪尔-托雷综合征。","authors":"Ekta Bagga, David Innes, Edmund Leung","doi":"10.22551/2023.40.1003.10255","DOIUrl":null,"url":null,"abstract":"<p><p>Muir-Torre Syndrome (MTS) is associated with multiple visceral malignancies. Initial presentation may be a benign skin tumor mimicking a sebaceous cyst. This case report highlights the importance of early diagnosis, genetic testing, and multidisciplinary screening. A 67-year-old man was diagnosed with MTS following excision of a skin lesion (sebaceoma). He was declined both screening colonoscopy and genetic testing. Subsequently, advanced colon cancer was found following presentation with iron deficiency anemia, which ultimately led to palliation despite successful surgery. MTS can present insidiously with skin lesions clinically diagnosed as sebaceous cysts. Once MTS is suspected on histology, genetic testing and screening for MTS-related cancers is warranted. Better understanding of the genetic variants for MTS can aid in earlier diagnosis thus not dismissing the need for screening for MTS-related cancers.</p>","PeriodicalId":72274,"journal":{"name":"Archive of clinical cases","volume":"10 3","pages":"119-122"},"PeriodicalIF":0.8000,"publicationDate":"2023-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b7/c7/acc-10-03-10255.PMC10510334.pdf","citationCount":"0","resultStr":"{\"title\":\"Looking beyond the surface: Muir Torre syndrome.\",\"authors\":\"Ekta Bagga, David Innes, Edmund Leung\",\"doi\":\"10.22551/2023.40.1003.10255\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Muir-Torre Syndrome (MTS) is associated with multiple visceral malignancies. Initial presentation may be a benign skin tumor mimicking a sebaceous cyst. This case report highlights the importance of early diagnosis, genetic testing, and multidisciplinary screening. A 67-year-old man was diagnosed with MTS following excision of a skin lesion (sebaceoma). He was declined both screening colonoscopy and genetic testing. Subsequently, advanced colon cancer was found following presentation with iron deficiency anemia, which ultimately led to palliation despite successful surgery. MTS can present insidiously with skin lesions clinically diagnosed as sebaceous cysts. Once MTS is suspected on histology, genetic testing and screening for MTS-related cancers is warranted. Better understanding of the genetic variants for MTS can aid in earlier diagnosis thus not dismissing the need for screening for MTS-related cancers.</p>\",\"PeriodicalId\":72274,\"journal\":{\"name\":\"Archive of clinical cases\",\"volume\":\"10 3\",\"pages\":\"119-122\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2023-09-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b7/c7/acc-10-03-10255.PMC10510334.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Archive of clinical cases\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.22551/2023.40.1003.10255\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archive of clinical cases","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.22551/2023.40.1003.10255","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Muir-Torre Syndrome (MTS) is associated with multiple visceral malignancies. Initial presentation may be a benign skin tumor mimicking a sebaceous cyst. This case report highlights the importance of early diagnosis, genetic testing, and multidisciplinary screening. A 67-year-old man was diagnosed with MTS following excision of a skin lesion (sebaceoma). He was declined both screening colonoscopy and genetic testing. Subsequently, advanced colon cancer was found following presentation with iron deficiency anemia, which ultimately led to palliation despite successful surgery. MTS can present insidiously with skin lesions clinically diagnosed as sebaceous cysts. Once MTS is suspected on histology, genetic testing and screening for MTS-related cancers is warranted. Better understanding of the genetic variants for MTS can aid in earlier diagnosis thus not dismissing the need for screening for MTS-related cancers.