Overview

Muir-Torre Syndrome (MTS) is a relatively rare variant of the more widely known condition called “Lynch Syndrome”. To understand MTS, it’s best to know a little bit about Lynch Syndrome as well.³ Lynch Syndrome is one of the most common causes of hereditary colorectal cancer (cancer of the colon and rectum). People with this condition are likely to also have problems with their reproductive organs, digestive system, urinary system, and others. So, how does this relate to Muir-Torre Syndrome?

What is Muir-Torre Syndrome?

A person might have Muir-Torre syndrome if they have skin differentiation and cancer of an internal organ system, most commonly, colon cancer, followed by the reproductive organs. 

The skin lesions appear due to changes to the oil glands (sebaceous glands) present on the skin and may develop before or after the internal cancer. It is important to understand the impacts and potential hindrances this condition could cause in someone’s life. Many forms of help and improvements can be made to boost one’s quality of life. The purpose of this article is to understand the changes this condition may affect one's quality of life and provide a guide to navigate your way through it, We will focus on how MTS affects your daily life, well-being, and long-term outcomes.

Medical background of Muir-Torre Syndrome

Genetic basis

MTS was discovered in 1968, and around 9.2% of people with Lynch syndrome tend to develop Muir-Torre syndrome. It is an autosomal dominant condition, by saying that it means that if one parent has the gene for it, there’s a 50% chance that the child will have the condition as well.

There is research showing that Muir-Torre syndrome is caused by a change to the genes MLH1 (Mutator L Homologue 1) and MSH2 (Mutator S Homologue 2).^7,8 It may occur randomly as well; there have been a few reports of Muir-Torre Syndrome from people who have gotten organs transplanted from someone else. After MTS-associated growths occur, the Tumor Suppression Gene in our body gets altered and  leads to the development of cancer growths in internal organs.⁴

According to the literature, there is a predisposition for males to develop it over women, with a ratio of 3:2, and the average age at which skin changes occur and is diagnosed is around 53 years of age.⁵

Clinical features

Features of the skin

• Sebaceous Adenoma: it is a small benign growth on the skin
• Sebaceoma/Sebaceous Epithelioma: a benign yellow or pale coloured growth on the skin
• Sebaceous Carcinoma: it is a growth on the skin (most commonly the eyelid) that is cancerous, it looks like a lump or skin thickening
• Keratoacanthoma with Sebaceous differentiation: a fast-growing, dome-shaped cancerous skin lump that usually grows on sun-exposed areas of the skin
• Basal Cell Carcinoma with sebaceous differentiation: another cancerous growth on the skin, usually on sun-exposed regions

These features can come up in any part of the body with sebaceous (oil) glands, including the nose and eyelids. It should be noted, however, that in Muir-Torre syndrome, most of the skin changes take place below the level of the neck.⁶

Internal Malignancies (most common)

• Colorectal Cancer
• Urothelial Cancer
• Breast Cancer
• Ovarian and Uterine Cancer
• Endometrial Cancer

Diagnostic process

Although the first diagnosis is a clinical one, where your doctor will see the lesion on your skin and ask about the symptoms you may have in your body, a few tests must be done to confirm the diagnosis.¹

Initially, a physical examination will be done to check the lumps or bumps on your skin. General blood tests and biochemical tests will also be discussed and done to help develop a diagnosis and management plan.

Then your doctor will check the immunohistochemistry of the cells of the skin growth, meaning they will do a deep dive into the kind of cells you have and the genes and properties of them.²

Further investigations include a biopsy of the sebaceous growth to get a better picture. Blood tests will be done to carry out genetic testing, especially if there are family members with Lynch associated cancers, if the person in question is under 50 years of age with just one skin manifestation, or if the growth is not on the head or neck.

The other tests that will be carried out will be specific to the symptoms, for example, if it is colorectal cancer, then a camera scan of the colon will be booked. If there are features of bladder cancer or ovarian cancer, different scans will be recommended.⁹

Once a proper diagnosis has been made, people with this condition will undergo yearly surveillance for any skin or internal organ changes. This includes more camera tests, testicular or prostate exams for men, and breast and pelvic exams for women. 

Tests such as blood tests, x-rays, biochemical tests, and urine tests will become more regular because it is vital to routinely check all your observations to be on top of any possible unfortunate changes.

Family members of these individuals will also be tested (genetic testing) to identify those posing a higher risk of having the same condition, and they’ll need surveillance as well.¹⁰ 

Physical impact on the quality of life

All skin lesions, if deemed cancerous, will be removed by surgery. This may be done by a wide local excision or Mohs micrographic surgery- a specific type of method for treating skin cancer lesions, the operating surgeon will carefully remove each layer of skin one by one and examine it microscopically to see if there are any remnants of cancer cells left. An annual skin examination will be a protective surveillance measure if the skin growth is benign.

It is always important to keep a lookout for any skin changes. If you do notice an odd growth that wasn’t there before, take pictures regularly to see if there are any changes, and know that a second professional opinion is always recommended.

Cancer of the internal organs will have a different management plan, which may include surgical intervention or chemotherapy, radiation care, and the duration of that treatment is difficult to say.

The physical impact on the quality of life of those with Muir-Torre syndrome includes cosmetic concerns, the impact resulting from prolonged investigations (frequent screening and invasive procedures for surveillance and diagnosing), chronic treatment (chemotherapy, radiation therapy), recovering from treatment, the impact on self-esteem as a result of these, and having to deal with fatigue, pain, and physical limitations. Most of these concerns vastly depend on the individual case, as every person will have different presenting features and severity in their cases.

It is good to have an understanding support system and caretaker throughout this journey when you are actively receiving treatment. With skin lesions, the recovery is relatively speedy, as the wound will recover within 4 weeks after it has been excised. However, there may be difficulties with carrying out day-to-day activities because of the fatigue your body will experience after chemotherapy and radiotherapy.

The skin manifestations, when removed, call for cosmetic concern; you will have to visit an aesthetician or plastic surgeon to help devise a treatment plan.

Psychological and emotional impact

Muir-Torre Syndrome and the emotional impact that comes with the condition are quite a heavy one. There is a possibility of passing the gene to your children, but there is also the possibility of getting everyone in the family to get check-ups done and pursue surveillance because they know of the possibilities.

People with this condition may have anxiety-induced panic attacks and stress because of the cancer risk, and carry a fear of developing new cancers, We recommend seeking genetic counselling and speaking to your GP about getting help with anxiety. Psychological support and counselling are great, professional coping mechanisms can help ease the tension of not knowing how to navigate your way through this, and heal from any emotional distress.

It can be difficult to cope with the visible skin lesions and can induce body image issues and stigma from surrounding people, We advise seeing an aesthetician if necessary.

Taking a holistic approach is sagacious as well; it can be scary, but there is always support should you seek it.

Social and economic impact

The cost of treatment, screening, and various testing can be costly and put a financial burden. There is the potential loss of income due to treatment-related absences and disability. It is important to get insurance and seek medical advice regarding financial concerns. Many healthcare systems provide adequate coverage for genetic testing and surveillance.

There may be challenges with developing social interactions and relationships. There are many support groups and a lot of people going through similar circumstances, It is best to surround yourself with people with a positive and understanding outlook on life, take up healthy and creative hobbies, practice mindfulness, and develop practices that will help you, your body, and your mind.

Prioritize regularly attending check-ups, but also be keen on accessing mental health services and support groups if needed. Seek social support and the necessary advocacy. Family, friends, and patient advocacy groups are so important for your well-being.

Summary

Muir-Torre Syndrome (MTS) is a rare variant of the more widely known condition called Lynch Syndrome. People with this condition are likely to also have problems with their reproductive organs, digestive system, urinary system, and other organs. A person with Muir-Torre syndrome will have skin lesions along with colon cancer or cancer in reproductive organs. The skin changes may look like small beginning bumps, yellow, thickened lumps, or dome-shaped bumps, depending on the site. It is always important to keep a lookout for any skin changes. If you do notice an odd growth that wasn’t there before, take pictures regularly to see if there are any changes, and know that a second professional opinion is always recommended. Muir-Torre Syndrome and the emotional impact that comes with the condition are quite heavy and financially draining. It is best to surround yourself with people with a positive and understanding outlook on life.