CION Cancer Clinics
Skin findings and Muir-Torre syndrome | CION Cancer Clinics
Muir-Torre syndrome is a form of Lynch syndrome that shows up on the skin. People with it develop unusual oil-gland growths or fast-growing lumps, alongside the bowel and womb cancers Lynch syndrome is known for. A single growth of this kind can be the first clue that a family carries an inherited fault. This page explains which skin findings matter, how the tissue is tested, and what happens next. At CION Cancer Clinics, our oncologists plan screening and care for families with an inherited cancer syndrome, explained in plain words.
On this page
- What is Muir-Torre syndrome?
- Which skin growths point to Muir-Torre, and which do not?
- What happens after a sebaceous growth is found?
- The words on a skin biopsy report, in plain language
- What makes a skin growth more or less likely to be Muir-Torre?
- Four things people assume about these skin growths
- What this page cannot tell you
- Common questions about Muir-Torre syndrome
The short answer
What is Muir-Torre syndrome?
Muir-Torre syndrome is Lynch syndrome with skin signs. The person carries the same inherited fault in a mismatch repair gene, one of the genes that fix copying errors in DNA. As well as the bowel, womb and other cancers of Lynch syndrome, they develop rare growths of the skin's oil glands. It is not a separate disease. It is one way the same fault can show itself.
Why the skin matters
Growths that arise from the oil glands are uncommon in the general population. When one appears, especially in a younger person or in someone who has already had bowel or womb cancer, it can point to an inherited fault that nobody had suspected. The skin growth is often small and harmless in itself. Its real value lies in what it tells the rest of the family.
Which gene is usually involved
Any of the Lynch syndrome genes can be responsible. The MSH2 gene is found more often in Muir-Torre families than in other Lynch families. A small number of families have a different cause altogether, involving a gene called MUTYH, which is passed down in a different way. Your counsellor will explain which of these applies to you, and what it means for brothers, sisters and children.
The skin growth is the clue. The inherited fault is the finding that matters for the family.The skin growths
Which skin growths point to Muir-Torre, and which do not?
Three kinds of growth are linked to the syndrome. A fourth, very common one is not, and it causes most of the worry.
Sebaceous adenoma or sebaceoma
Benign growths of the oil glands. They usually appear as a smooth yellowish or skin-coloured bump on the face, scalp or upper body. Of all the skin findings, these are the ones most strongly linked to the syndrome.
Often looks like
- A small, smooth, yellowish bump
- Slow growth, with no pain
- More than one, appearing over the years
Sebaceous carcinoma
A cancer of the oil glands. It can appear on the eyelid or elsewhere on the skin. It needs complete removal and follow-up, and the tissue is always worth checking for a repair fault.
Keratoacanthoma
A dome-shaped lump that grows quickly over a few weeks, often with a crusted centre. These are common on sun-exposed older skin and usually have nothing to do with genes. In someone with oil-gland growths or Lynch-type cancers, they carry more meaning.
Not a clue: sebaceous hyperplasia
Small, soft yellow bumps with a tiny dimple in the middle, very common on the faces of middle-aged and older adults. These are enlarged normal oil glands, not tumours.
Sebaceous hyperplasia is not a sign of Muir-Torre and does not need genetic testing.Not sure whether this applies to you?
Ask an oncologistAfter the biopsy
What happens after a sebaceous growth is found?
The growth is removed and examined
A dermatologist or surgeon removes it. A pathologist looks at it under the microscope and names the type of growth.
The tissue is stained for repair proteins
A special stain checks whether the four mismatch repair proteins are present. It runs on the tissue already stored from the biopsy, so no new procedure is needed.
A referral to genetic counselling
A missing protein is a reason to look further, not a diagnosis. The counsellor draws your family tree and asks about bowel, womb, stomach, urinary and skin cancers on both sides.
A blood test for the inherited fault
If testing is advised, a blood sample is checked for faults in the mismatch repair genes. This is the test that confirms or rules out an inherited cause.
Surveillance and family testing
If a fault is found, you follow the Lynch syndrome surveillance plan with a regular skin check added. Relatives can then be tested for that exact fault.
On your report
The words on a skin biopsy report, in plain language
- Sebaceous gland
- A tiny gland in the skin that makes oil. Most sit beside hair roots, which is why the face and scalp are common sites.
- Sebaceous neoplasm
- Any growth that arises from these oil glands. The term covers the harmless adenoma and sebaceoma as well as the rarer carcinoma.
- Mismatch repair (MMR)
- The cell's proofreading system. Four main proteins check new DNA for copying errors and fix them. Lynch syndrome is a fault in one of the genes that makes them.
- Immunohistochemistry (IHC)
- A stain that shows whether each repair protein is present in the tissue. "Loss of expression" on a report means a protein is missing.
- Microsatellite instability (MSI)
- A second tissue test. It looks for the pattern of copying errors that builds up when proofreading has failed.
- Germline test
- A blood or saliva test for a fault present in every cell from birth. It is the only test that can confirm an inherited cause.
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Side by side
What makes a skin growth more or less likely to be Muir-Torre?
Commonly believed
Four things people assume about these skin growths
The bump is often harmless. What matters is what it can reveal. In Muir-Torre the same inherited fault raises the risk of bowel, womb and other cancers, and the skin sometimes gives the warning first.
Not always. Oil-gland growths can lose a repair protein for reasons that are not inherited, including long-term medicines that suppress the immune system after a transplant. Only a germline blood test answers the question.
Removing the growth treats the growth. It does not tell you whether there is an inherited fault. Ask whether the tissue was stained for the repair proteins. If it was not, the stored block can usually still be tested.
A skin growth can be the first sign even when the family history looks quiet. Small families, early deaths and cancers that were never named can hide a pattern. The stain looks at the growth itself, so it does not depend on the family story.
Being straight with you
What this page cannot tell you
It cannot tell you whether the bump on your skin is a sebaceous tumour. Only a biopsy read by a pathologist can do that. Many yellowish bumps on the face are enlarged normal oil glands, and a dermatologist can often tell the difference just by looking.
It cannot read your stain or your gene result
A report showing a missing repair protein, or a blood result that names a variant, needs to be read in context. What your specific variant means is a question for the counsellor who ordered the test. The same finding can lead to very different advice depending on your age, your other illnesses and your family.
Who this does not apply to
Most people with small yellow bumps on the face have sebaceous hyperplasia, which is common with age and has no link to the syndrome. A single keratoacanthoma on sun-damaged skin in an older person is usually not a genetic sign either. If neither you nor your family has had Lynch-type cancers, this page is probably not about you.
Evidence on how often the skin should be checked is limited. Studies so far are small, and advice varies between centres.Questions we are asked
Common questions about Muir-Torre syndrome
Is Muir-Torre syndrome different from Lynch syndrome?
It is best thought of as a form of Lynch syndrome. The same inherited faults in the mismatch repair genes are usually responsible, and the internal cancer risks are managed in the same way. The difference is that the skin is also involved, so a regular skin check is added to the plan.
Are sebaceous skin growths dangerous?
Most are not. Sebaceous adenomas and sebaceomas are benign and are simply removed. Sebaceous carcinoma is a cancer and needs complete removal with follow-up. The main reason these growths matter is what they can reveal about risk elsewhere in the body.
A growth was removed years ago. Can it still be tested?
Usually, yes. Laboratories keep the wax tissue block from a biopsy. Ask the laboratory that processed it for the block or slides, and your doctor can request the repair protein stain. Keep the original report and the laboratory's reference number together.
How often should my skin be checked?
People with Muir-Torre are generally offered a regular full skin examination by a dermatologist, often once a year, alongside Lynch syndrome surveillance. Some centres check more often once growths have appeared. The exact plan depends on your history and on your specialist's advice.
Can new skin growths be prevented?
There is no proven way to stop them forming. Some specialists have tried medicines to reduce new growths in people who get many, but the evidence is limited. Sun protection is sensible for everyone. Prompt removal of any new growth is the usual approach.
Should my children be tested?
Lynch syndrome faults mainly raise risk in adult life, so testing children usually waits until they are adults and can decide for themselves. There are exceptions, such as when both parents may carry a fault. Your counsellor will advise on timing for your family.
Do transplant medicines cause these growths?
Long-term medicines that suppress the immune system, such as those taken after a kidney transplant, can make oil-gland growths appear. In some people they reveal an inherited fault that was already there. A growth after a transplant still deserves the repair protein stain and a genetics opinion.
Where do I start if I have had a sebaceous growth?
Find your biopsy report and check whether the repair proteins were tested. Write down any bowel, womb, stomach, urinary or skin cancers in the family, with rough ages, on both sides. Take both to a genetic counsellor or your oncologist. The CION helpline can point you to the right clinic.
Meet CION's oncologists. Bring your family history or genetic report to them.
Our medical oncologists see people with a strong family history of cancer, arrange genetic counselling and testing where it fits, and plan the checks that follow.
Dr. C. Raghavendra Reddy
MBBS(Gold Medal), DNB(General Medicine), DM(Medical Oncology)(Gold Medal)
Dr. Bharati Devi Gorantla
MBBS, MD(General Medicine), DM(Medical Oncology)(Adyar,Chennai), ECMO, MRCP SCE(UK)
Dr. Owais Mohammed
MBBS, MD (General Medicine), DrNB (Medical Oncology), ECMO, MRCP SCE (Medical Oncology) (UK)
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Sources
- GeneReviews (NCBI) — Lynch Syndrome
- MedlinePlus Genetics — Lynch syndrome
- National Cancer Institute — Genetics of Colorectal Cancer (PDQ) - Health Professional Version
- National Cancer Institute — Genetic Testing for Inherited Cancer Susceptibility Syndromes
This page is general information, not a prescription. Do not change or stop any treatment based on what you read here. If anything is worrying you, contact your own treating team — or call our helpline and we will help you reach the right specialist.
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Was a sebaceous growth found on your skin?
Send us the biopsy report and tell us about any cancers in the family. We will check whether the tissue was tested for the repair proteins and arrange a genetics referral if it is worth making. One helpline serves every CION centre.