Muir-Torre Syndrome: Causes, Symptoms, and Treatment
Written by Achuta Uppu, MD. Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Muir-Torre Syndrome?
A dermatologist (a skin doctor) often first suspects Muir-Torre syndrome. A geneticist (a doctor who diagnoses inherited conditions) can confirm it. Other specialists, such as a gastroenterologist (a digestive tract doctor), check for cancers inside the body. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Muir-Torre syndrome?
Muir-Torre syndrome (MTS) is a rare inherited condition. It is a form of Lynch syndrome. People with MTS have sebaceous tumors, which are growths of the skin oil glands. They also have at least one cancer in an internal organ, most often in the digestive tract.
Lynch syndrome is an inherited disorder that increases the risk of many types of cancer.
Symptoms
The main sign is skin growths from the oil glands, called sebaceous tumors. These tumors are commonly found on the face and neck.
Skin growths linked to MTS include:
- Sebaceous adenomas and sebaceous epitheliomas (growths of the oil glands).
- Sebaceous carcinomas (cancers of the oil glands).
- Keratoacanthomas, another type of skin growth.
Not every sebaceous growth means MTS. Sebaceous hyperplasia is a very common, harmless overgrowth of oil glands. It is not linked to MTS, while sebaceous adenoma is the most common sebaceous tumor in the syndrome.
People with MTS also get cancers in internal organs. These are mainly colorectal, endometrial, ovarian, and kidney and ureter cancers. Colorectal means colon and rectum. Endometrial means the lining of the uterus. The ureter is the tube that carries urine from the kidney to the bladder.
The age when cancer starts ranges from 23 to 89, with a median age of about 53.
Causes and who gets it
MTS is caused by changes in genes that fix mistakes made when DNA is copied. These are called mismatch repair genes. They include MLH1, MSH2, MSH6 and PMS2.
MTS is an autosomal dominant disorder. This means one changed copy of a gene is enough to raise the risk of cancer. Not all people with Lynch syndrome will develop cancer.
How doctors diagnose it
Suspicion of MTS can come up during a visit to a skin doctor. It is confirmed with lab tests on the removed growth and with genetic testing.
A person with a suspected case has the growth removed. Lab tests on the growth and genetic tests follow.
Today, diagnosis is based on genetics. Signs and symptoms alone are not clear enough. Lab tests on the growth can point to the diagnosis with great accuracy. But they can miss cases, because the gene change found in the growth may not be one passed down in a family. A detailed personal and family history can help.
Most sebaceous growths in MTS show a loss of a repair protein called MSH2. An abnormal stain result like this leads to genetic testing to confirm the diagnosis.
Treatment
Skin growths in MTS are treated the same way as a single sebaceous tumor. For harmless sebaceous growths, doctors recommend removing the whole growth by surgery. This is preferred over a punch biopsy, which takes only a small sample.
For sebaceous carcinoma, surgery that removes the tumor with cancer-free edges (margins), such as Mohs surgery, is used.
People with MTS or Lynch syndrome should have colonoscopies early and often. Do not wait for genetic test results to ask your doctor about a colonoscopy. A colonoscopy is an exam of the colon with a thin tube that has a camera. It starts around age 18 and is then repeated every 1 to 2 years. An upper endoscopy, which looks at the food pipe and stomach, starts around age 25. You also need yearly checks of the skin and other organs. Your care team will set the exact schedule.
MTS needs close cancer checks for the patient and for the whole family. A team approach is essential, with close follow-up.
When to see a doctor
See a doctor if you notice new skin growths, especially on the face or neck. Multiple sebaceous growths are a reason to think about MTS.
Also tell your doctor about cancers in your family, especially if you have sebaceous growths. Lynch-related cancers include colorectal, endometrial, ovarian, small bowel, urinary tract, and biliary tract cancers.
Call 911 or go to the emergency room for bleeding that will not stop, vomiting blood, or severe abdominal pain.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care doctor can review your family history and help coordinate visits with specialists, such as a gastroenterologist.
Common questions
Is Muir-Torre syndrome inherited?
Yes. Muir-Torre syndrome is an autosomal dominant disorder, so one changed copy of a gene is enough to raise the risk of cancer.
What cancers are linked to Muir-Torre syndrome?
The cancers seen most often are colorectal, endometrial, ovarian, and kidney and ureter cancers. Sebaceous carcinoma, a skin cancer of the oil glands, is also linked to it.
How is Muir-Torre syndrome diagnosed?
Diagnosis is based on genetics. A doctor removes the skin growth and tests it in a lab. Genetic testing then confirms the diagnosis.
Do all sebaceous skin growths mean Muir-Torre syndrome?
No. Sebaceous hyperplasia, a very common harmless overgrowth of oil glands, is not linked to MTS. Multiple sebaceous tumors are a reason for a doctor to think about MTS.
Sources
- National Library of Medicine (PubMed Central) - Sebaceous Neoplasms
- MedlinePlus Genetics - Lynch syndrome
- National Cancer Institute - Genetics of Colorectal Cancer (PDQ)
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
