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Disease Profile

Muir-Torre syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

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ICD-10

L72.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas; Keratoacanthoma

Categories

Congenital and Genetic Diseases; Digestive Diseases; Eye diseases;

Summary

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]

Symptoms

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]

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.

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

Cause

Muir-Torre syndrome is a subtype of Lynch syndrome and may be caused by changes (mutations) in either the MLH1MSH2, 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.

Diagnosis

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.

Organizations

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

      Learn more

      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.

          References

          1. Torre-Muir syndrome. DermNet NZ. January 24, 2015; https://www.dermnetnz.org/systemic/torre-muir.html.
          2. Victor A. McKusick. MUIR-TORRE SYNDROME; MRTES. OMIM. October 10, 2014; https://www.omim.org/entry/158320.
          3. Muir-Torre Syndrome. Cancer.Net (American Society of Clinical Oncology). September, 2014; https://www.cancer.net/cancer-types/muir-torre-syndrome.
          4. Victor G Prieto. Muir-Torre Syndrome. Medscape. May 9, 2014; https://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; https://ghr.nlm.nih.gov/gene/MSH2.
          7. Lynch Syndrome. GeneReviews. May 22, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1211/.
          8. Prieto VG. Muir-Torre syndrome. eMedicine. January 29, 2010; https://emedicine.medscape.com/article/1093640-overview. Accessed 6/2/2011.

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