What is Muir-Torre syndrome?
Muir-Torre syndrome is a rare genetic condition that raises the risk of getting certain skin tumors and internal cancer like colon or uterine cancer. As a subtype of Lynch syndrome, it occurs because of changes (mutations or pathogenic variants) in genes that normally help fix mistakes in DNA. When these genes are not working properly, DNA errors permit abnormal cells and tumors to form in the skin and internal organs.
Penn Medicine is a recognized leader in the diagnosis and management of genetic disorders affecting the skin, including Muir-Torre syndrome.
What are the symptoms of Muir-Torre syndrome?
People with Muir-Torre syndrome may notice unusual growths on their skin or may be diagnosed with certain types of cancer, most commonly colorectal cancer and endometrial (uterine) cancer. Signs and symptoms often show up in early adulthood or later in life. They typically include:
- Uncommon skin growths, such as bumps or lumps near oil glands (sebaceous tumors), fast-growing skin nodules (keratoacanthomas), or multiple skin lesions in areas not usually exposed to the sun
- A personal or family history of colorectal, endometrial, or other internal cancers
- Cancer at a younger age, often before age 50
- More than one type of cancer in the same person, or cancer that returns after treatment
What causes Muir-Torre syndrome?
Muir-Torre syndrome is caused by mutations or pathogenic variants in specific genes responsible for repairing errors in DNA. These genes are part of the DNA mismatch repair system. When they are altered, the body struggles to fix mistakes that happen during cell division, leading to unstable DNA and an increased risk of cancer. A parent with the mutation has a 50 percent chance of passing it to their children.
Some people have latent Muir-Torre syndrome, meaning they carry the condition without any symptoms or awareness. In certain cases, the disease may become active when the immune system is suppressed. For example, this can happen after an organ transplant because the immunosuppressant drugs used to prevent rejection of the new organ also weaken the body’s ability to detect and control abnormal cell growth.
Diagnosing Muir-Torre syndrome
Diagnosis often involves a combination of physical exams, imaging, tissue analysis, and genetic evaluation to identify signs of cancer and underlying genetic mutations.
Treatment for Muir-Torre syndrome
Treatment for Muir-Torre syndrome focuses on catching cancers early through regular screenings like pap smears and skin checks, surgically removing tumors, and preventing new skin growths with medications. In some cases, additional therapies may be recommended based on the type and stage of cancer.
Connected, collaborative care for rare and complex skin conditions
Patients with Muir-Torre syndrome and other rare genetic skin conditions benefit from the depth and breadth of expertise at Penn Medicine. Penn Dermatology is nationally recognized for excellence in diagnosing and managing skin diseases, and our oncologists are leaders in the management of hereditary cancers.
Our dermatologists and oncologists, together with genetic experts and other top specialists within Penn’s system, collaborate closely to tailor care for complex conditions. With our strong focus on research, you’ll have access to promising clinical trials and the latest innovations in treatment.