National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Muir-Torre syndrome


Other Names:
Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas; Keratoacanthoma
Categories:
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
Sebaceous adenoma is the most characteristic finding in people with Muir-Torre syndrome (MTS). Other types of skin tumors in affected people include sebaceous epitheliomas, sebaceous carcinomas (which commonly occur on the eyelids) and keratoacanthomas. Sebaceous carcinoma of the eyelid can invade the orbit of the eye and frequently metastasize, leading to death. Tumors at other sites can also metastasize, but are less likely to cause death. Common sites of keratocathomas include the face and the upper side of the hands, but they can occur anywhere on the body.[4]

The most common internal cancer in people with MTS is colorectal cancer, occurring in almost half of affected people. The second most common site is the genitourinary tract. Other cancers that may occur include breast cancer, lymphoma, leukemia (rarely), salivary gland tumors, lower and upper respiratory tract tumors, and chondrosarcoma. Intestinal polyps as well as various benign tumors may also occur.[4]
Last updated: 6/15/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 19 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Adenoma sebaceum 0009720
30%-79% of people have these symptoms
Colon cancer 0003003
Neoplasm of the stomach
Stomach tumor
0006753
5%-29% of people have these symptoms
Breast carcinoma
Breast cancer
0003002
Endometrial carcinoma 0012114
Hematological neoplasm 0004377
Laryngeal carcinoma 0012118
Malignant genitourinary tract tumor 0006758
Neoplasm of the liver
Liver cancer
Liver tumor
[ more ] 		0002896
Renal neoplasm
Renal tumors
0009726
Salivary gland neoplasm 0100684
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Basal cell carcinoma 0002671
Benign gastrointestinal tract tumors
Non-cancerous GI tumors
0006719
Benign genitourinary tract neoplasm 0006778
Carcinoma 0030731
Colonic diverticula 0002253
Duodenal adenocarcinoma 0006771
Sebaceous gland carcinoma 0030410
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Last updated: 7/1/2020
Muir-Torre syndrome is a subtype of Lynch syndrome and may be caused by changes (mutations) in either the MLH1, MSH2, or MSH6 gene.[2][5] These genes give the body instructions to make proteins needed for repairing DNA. The proteins help fix mistakes that are made when DNA is copied before cells divide. When one of these genes is mutated and causes the related protein to be absent or nonfunctional, the number of DNA mistakes that do not get repaired increases substantially. The affected cells do not function normally, increasing the risk of tumor formation. The MSH2 gene is responsible for MTS in the majority of cases.[4][6] Mutations in MLH1 and MSH2 have the most severe effect.[5]

Not everyone diagnosed with MTS will have a detectable mutation in one of these genes.[3] Other, unidentified genes may also play a role in the development of the condition.
Last updated: 6/15/2015
Muir-Torre-syndrome (MTS) is a variant of Lynch syndrome and is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough for a person to develop the condition. When a person with an autosomal dominant condition has children, each child has 50% (1 in 2) chance to inherit the mutated copy of the responsible gene. It is important to note that people who inherit a mutated gene that causes MTS inherit an increased risk of cancer, not the disease itself. Not all people who inherit a mutation in an associated gene will develop cancer. This phenomenon is called reduced penetrance.

The majority of people diagnosed with a form of Lynch syndrome have inherited the mutated gene from a parent. However, because not all people with a mutation develop cancer, and the variable age at which cancer may develop, not all people with a mutation have a parent who had cancer.[7] Thus, the family history may appear negative. A positive family history of MTS is identified in roughly 50% of affected people.[4] The percentage of people with Lynch syndrome who have a new mutation in the gene that occurred for the first time (and was not inherited from a parent) is unknown but is estimated to be extremely low.[7]
Last updated: 6/15/2015
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[5]
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.[3] Other, unidentified genes may also play a role in the development of the condition.
Last updated: 6/15/2015
About 60% of people with MTS develop metastatic disease.  Prognosis may depend on the associated internal cancer(s) each affected person has. People with MTS should have regular screening examinations, particularly of the gastrointestinal and genitourinary tracts.[8]
Last updated: 6/3/2011

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • Lynch Syndrome International (LSI) Web site lists Lynch syndrome clinical trials and patient registries. Click on the link above to view the list.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Muir-Torre syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Muir-Torre syndrome:
    HEROIC Registry, Hereditary Cancer Research Champions
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have been diagnosed with this syndrome but no one in my family history has exhibited any of the cancers related to this. Could Muir-Torre syndrome be caused by exposure to certain herbicides, specifically Agent Orange? See answer

  • I have a patient with Muir-Torre syndrome. Can you provide me with information related to this condition? See answer


  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.
  4. Victor G Prieto. Muir-Torre Syndrome. Medscape. May 9, 2014; http://emedicine.medscape.com/article/1093640-overview.
  5. Patricia Tai. Muir-Torre syndrome. UpToDate. Waltham, MA: UpToDate; January 5, 2015;
  6. MSH2. Genetics Home Reference. May, 2013; http://ghr.nlm.nih.gov/gene/MSH2.
  7. Lynch Syndrome. GeneReviews. May 22, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1211/.
  8. Prieto VG. Muir-Torre syndrome. eMedicine. January 29, 2010; http://emedicine.medscape.com/article/1093640-overview. Accessed 6/2/2011.