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.

Tests & Diagnosis

Newline Maker

How is Muir-Torre syndrome diagnosed?

A person is suspected to have Muir-Torre syndrome (MTS)if he/she has one or more of the following:
  • History of one or more sebaceous tumors
  • Age younger than 60 years at first presentation of sebaceous tumors
  • Personal history of Lynch-related cancers
  • Family history of Lynch-related cancers[1]
The presence of specific skin tumors in MTS may lead to the correct diagnosis even in the absence of a clear family history. A person diagnosed with MTS can also have genetic testing to see if they have a mutation in one of the genes known to cause MTS. However, not everyone with Muir-Torre syndrome will have a detectable mutation in one of these genes.[2] Other, unidentified genes may also play a role in the development of the condition.
Last updated: 6/15/2015

References
  1. Patricia Tai. Muir-Torre syndrome. UpToDate. Waltham, MA: UpToDate; January 5, 2015;
  2. Muir-Torre Syndrome. Cancer.Net (American Society of Clinical Oncology). September, 2014; http://www.cancer.net/cancer-types/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.