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Muir-Torre syndrome


Other Names for this Disease

  • Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
  • Keratoacanthoma
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Overview

Muir-Torre syndrome is an autosomal dominant skin condition of genetic origin, characterized by tumors of the sebaceous gland or keratoacanthoma that are associated with visceral malignant diseases (cancers of the internal organs). The cutaneous characteristics of Muir-Torre syndrome are sebaceous adenoma, sebaceous epithelioma, sebaceous carcinoma, or multiple keratoacanthomas, whereas visceral malignant diseases include colorectal, endometrial, urological, and upper gastrointestinal tumors. Men are affected twice as often as women.[1][2] Muir-Torre syndrome is associated with hereditary non-polyposis colon cancer (HNPCC), an autosomal dominant cancer genetic syndrome. Sebaceous neoplasms associated with Muir-Torre syndrome exhibit microsatellite instability (MSI), as do other HNPCC-related cancers.[3][4]
Last updated: 6/2/2011

References

  1. Ponti G, Ponz de Leon M. Muir-Torre syndrome. Lancet Oncol. 2005; http://www.ncbi.nlm.nih.gov/pubmed?term=16321766. Accessed 6/2/2011.
  2. Abeloff. Chapter 70. Clinical Oncology, 3rd edition. Churchill Livingstone; 2004;
  3. Kohlmann W, Gruber SB. Hereditary Non-Polyposis Colon Cancer. GeneReviews. November 29, 2006; http://www.ncbi.nlm.nih.gov/books/NBK1211/. Accessed 6/2/2011.
  4. Prieto VG. Muir-Torre syndrome. eMedicine. January 29, 2010; http://emedicine.medscape.com/article/1093640-overview. Accessed 6/2/2011.
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Basic Information

  • Lynch Syndrome International (LSI) provides Lynch syndrome information For Survivors and For Professionals. Click on For Survivors or For Professionals to visit the LSI Web site and view the information pages.
  • The American Society of Clinical Oncology provides information on Muir-Torre syndrome. Click on the link to view this information.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
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  • PubMed is a searchable database of medical literature and lists journal articles that discuss Muir-Torre syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
  • Keratoacanthoma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.