Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Muir-Torre syndrome


Other Names for this Disease
  • ACHM
  • Achromatopsia
  • Complete or incomplete color blindness
  • Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
  • Familial 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.

Overview

Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers.[1][2][3] The most common internal site involved is the gastrointestinal tract (with almost half of affected people having colorectal cancer), followed by the genitourinary tract. Skin lesions may develop before or after the diagnosis of the internal cancer.[1] MTS is caused by changes (mutations) in the MLH1 or MSH2 genes and is inherited in an autosomal dominant manner.[2] A mutation in either of these genes gives a person an increased lifetime risk of developing the skin changes and types of cancer associated with the condition.[3]
Last updated: 6/11/2015

References

  1. Torre-Muir syndrome. DermNet NZ. January 24, 2015; http://www.dermnetnz.org/systemic/torre-muir.html.
  2. Victor A. McKusick. MUIR-TORRE SYNDROME; MRTES. OMIM. October 10, 2014; http://www.omim.org/entry/158320.
  3. Muir-Torre Syndrome. Cancer.Net (American Society of Clinical Oncology). September, 2014; http://www.cancer.net/cancer-types/muir-torre-syndrome.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • 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. 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.
  • 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
  • ACHM
  • Achromatopsia
  • Complete or incomplete color blindness
  • Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
  • Familial 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.