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Muir-Torre Syndrome

Table of Contents

Muir-Torre Syndrome

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

Muir-Torre syndrome is a rare, inherited disorder that causes tumors to form in the oil glands in skin and in at least one internal organ. It is a type of Lynch syndrome.

Sebaceous adenoma - low mag

Image by Nephron/Wikimedia

Summary

Sebaceous Gland

Image by OpenStax College

Sebaceous Gland

Illustration of Sebaceous Glands

Image by OpenStax College

What Is Muir-Torre Syndrome?

Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers. 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. MTS is caused by changes (mutations) in the MLH1 or MSH2 genes and is inherited in an autosomal dominant manner. 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.

Source: Genetic and Rare Diseases (GARD) Information Center

Symptoms

Insertion of sebaceous glands into hair shaft

Image by Kilbad

Insertion of sebaceous glands into hair shaft

This is a hematoxylin and eosin stained slide at 10x of the insertion of sebaceous glands into hair shaft in a full, normal pilosebaceous unit, sectioned from tissue also found to have a benign intradermal nevus.

Image by Kilbad

What Are the Signs and Symptoms of Muir-Torre Syndrome?

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.

Source: Genetic and Rare Diseases (GARD) Information Center

Causes

Mutation of Genes

Image by Kaden11a/Wikimedia

Mutation of Genes

A mutation occurring

Image by Kaden11a/Wikimedia

What Causes Muir-Torre Syndrome?

MSH2, or MSH6 gene. 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. Mutations in MLH1 and MSH2 have the most severe effect.

Not everyone diagnosed with MTS will have a detectable mutation in one of these genes. Other, unidentified genes may also play a role in the development of the condition.

Source: Genetic and Rare Diseases (GARD) Information Center

Inheritance

Autosomal Dominant and Infant

Image by TheVisualMD / Domaina

Autosomal Dominant and Infant

Autosomal dominant : an autosomal dominant pattern.

Image by TheVisualMD / Domaina

How Is Muir-Torre Syndrome Inherited?

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. Thus, the family history may appear negative. A positive family history of MTS is identified in roughly 50% of affected people. 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.

Source: Genetic and Rare Diseases (GARD) Information Center

Screening

Components of Blood

Image by TheVisualMD

Components of Blood

Components of Blood : Our blood is composed of many different components, the largest categories being red and white blood cells (blood-clotting platelets are another key component) and the liquid portion known as blood plasma. A Complete Blood Count (CBC) includes several of the most basic, yet important, measurements of these components.

Image by TheVisualMD

What Types of Evaluations Are Recommended for Individuals At-Risk for Muir-Torre Syndrome?

Muir-Torre syndrome should be considered in patients initially seen with sebaceous tumors of the eyelid or other sebaceous adenomas. Immunohistochemistry for MSH2 is a practical initial approach to screen for Muir-Torre syndrome in patients with sebaceous tumors.

The following laboratory tests can be of diagnostic value if patients present with cutaneous signs of Muir-Torre syndrome:

Sigmoidoscopy may be performed for screening of colonic polyposis and colonic carcinoma.
Endoscopy may be performed to check for an occult gastric carcinoma.
Serum carcinoembryonic antigen values are frequently increased in patients with colonic carcinomas.
A complete blood cell count assists in detecting hematologic malignancies.
A bone marrow examination may be needed to further delineate a hematologic malignancy.
Laryngoscopy with biopsy examination of any suspicious lesions can rule out an occult laryngeal carcinoma.
Abdominal CT scanning and MRI assist in detecting an occult internal malignancy, such as kidney and urothelial cancers, in patients with Muir-Torre syndrome.
A biopsy of skin tumors performed for histopathologic examination provides an accurate diagnosis of sebaceous neoplasms, including sebaceous adenomas.
Histopathologic examination of specimens obtained from polypectomy (removal of individual polyps) and laryngoscopy of patients with suspected Muir-Torre syndrome confirms the presence or the absence of occult internal malignancy.
Peripheral blood smear, bone marrow examination, and lymph node biopsy may assist in detecting an associated hematologic malignancy in these patients.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (1)

Cancer Screening

Screening for Cancer: Blood Tests : Blood tests can help detect cancer, but additional tests are necessary to confirm diagnosis. A blood test is a laboratory analysis performed on a blood sample that is usually extracted from a vein in the arm using a needle, or via fingerprick. Examples of blood tests used to diagnose cancer include Complete Blood Count (CBC) which measures the amount of various types of blood cells and detects if there are too many or too few of a type of blood cell or abnormal cells; and Blood Protein Testing which is a test to examine various proteins in blood (electrophoresis) that can aid in detecting certain abnormal immune system proteins (immunoglobulins) that are sometimes elevated in people with multiple myeloma.

Image by TheVisualMD

Cancer Screening

TheVisualMD

Diagnosis

Inheritance and Family Medical History

Image by mcmurryjulie

Inheritance and Family Medical History

Family History

Image by mcmurryjulie

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

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. Other, unidentified genes may also play a role in the development of the condition.

Source: Genetic and Rare Diseases (GARD) Information Center

Prognosis

Prognosis Icon

Image by mcmurryjulie/Pixabay

Prognosis Icon

Image by mcmurryjulie/Pixabay

What Is the Long-Term Outlook for People with Muir-Torre Syndrome?

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.

Source: Genetic and Rare Diseases (GARD) Information Center

Related HealthJournals

Genetic Testing

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Over 2000 tests are available. Genetic testing may be done for many reasons, from newborn baby screening to diagnosing certain diseases. Read about why you might consider testing.

Lynch Syndrome

Lynch syndrome is an inherited genetic condition that significantly raises a person's risk of developing cancer. The cancer is most frequently in the digestive tract, particularly the colon, rectum and stomach, but also can be present in the liver, gallbladder ducts, urinary tract, brain, skin and prostate. Learn more about screening and treatment.

Sebaceous Glands

A sebaceous gland is a type of oil gland that is found all over the body and helps to lubricate and waterproof the skin and hair. Most sebaceous glands are associated with hair follicles. They...

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Muir-Torre Syndrome

Muir-Torre syndrome is a rare, inherited disorder that causes tumors to form in the oil glands in skin and in at least one internal organ. It is a type of Lynch syndrome.

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