Skin Deep

January 20, 2014 in family history, genetic research, medical history by Ami McKay

Hair Follicle Triplet - by Dr. Alexander Meves

Hair Follicle Triplet – by Dr. Alexander Meves

A few years ago I had a mole on my left forearm that went rogue. My youngest son, who was only seven at the time was the first to notice the change. “That looks weird, Mom,” he said. “I don’t like it.”

I’ve always been a freckled, somewhat mole-covered individual, so I didn’t think much of his comments at first. Thankfully, the kid wouldn’t allow me to dismiss his observations. He leaned on me until I made an appointment to have it looked at by a professional.

The dermatologist agreed with my son. The mole was suspicious and needed to be removed and tested, immediately.

When the test results came back, I was given the diagnosis: “Melanoma in situ.” Translation: The mole was Stage 0. Abnormal melanocytes were found in the epidermis. These abnormal melanocytes could  become cancer and spread into nearby normal tissue. I made appointments for day surgery to have the surrounding tissue removed and to have a few other tests.

While I waited for the next round of test results, I beat myself up over the times my fifteen-year-old self had slathered suntan oil on my body and laid-out on the roof of the woodshed in my parent’s backyard. If I’d only known then what I know now. Stupid girl. No one cares that you didn’t go to Florida on spring break.

"Deep Impact" asteroid body, H&E stain, by Craig Roelke, M.D.

“Deep Impact” asteroid body, H&E stain, by Craig Roelke, M.D.

What’s that got to do with Lynch Syndrome?

While the discovery of my rogue mole and the subsequent diagnosis most likely wasn’t directly related to Lynch Syndrome, the experience did lead to my making annual visits with a dermatologist a priority. Once the doctor found out that I had Lynch Syndrome with the MSH2 mutation, he also began looking for outward signs of Muir-Torre Syndrome as well as suspicious moles.

What’s Muir-Torre Syndrome?

Muir–Torre Syndrome (MTS) is a rare hereditary, autosomal dominant cancer syndrome that is thought to be a subtype of HNPCC (or Lynch Syndrome). Individuals are prone to develop cancers of the colon, breast, and genitourinary tract, and skin lesions, such as keratoacanthomas and sebaceous tumours. The genes affected are MLH1, MSH2, and more recently, MSH6, and are involved in DNA mismatch repair. – from Wikipedia.

People with Muir-Torre syndrome are also at risk for developing certain skin changes in adulthood that may form in the sebaceous glands. The sebaceous glands are located just under the skin and produce an oily substance that is a part of sweat called sebum. The typical skin changes found in Muir-Torre syndrome are sebaceous adenomas, sebaceous epitheliomas, sebaceous carcinomas, and keratocanthomas. Most of these skin conditions are associated with noncancerous lumps on the skin, some of which are liquid-containing cysts. Basal cell carcinoma, a common type of skin cancer usually related to sun exposure, has also been reported in people with Muir-Torre syndrome. Only the skin carcinomas are cancerous. Muir-Torre syndrome is also associated with rare cancers of the sebaceous glands. If a cancer of the sebaceous gland is diagnosed, it is recommended that the patient talk with a genetic counselor or geneticist (a doctor with training in genetic diseases and conditions) that is familiar with the syndrome as part of his or her medical care. – from Cancer.net

In other words, if you’ve got Lynch Syndrome (specifically with the MLH1, MSH2, or possibly the MSH6 mutation) you should consider adding an annual  dermatological screening to your list of things to do.

"Party in the Papillary Dermis" - by Allison Arthur, M.D.

“Party in the Papillary Dermis” – by Allison Arthur, M.D.

Long ago, my mom had mentioned the possibility of Muir-Torre syndrome being part of our family’s medical history profile, but I’d only paid close enough attention to remember the name. When my dermatologist brought it up during one of my appointments, I finally began to put the pieces together. It’s easy to overlook the lumps and bumps of aging and dismiss subtle changes in your sebaceous glands etc. That’s why it’s so important to have a trained set of eyes on your body once a year. It’s my understanding that sometimes these changes come after CRC has arrived, sometimes in concert, and sometimes they act as a herald, a possible first sign that a tumour  is about to form inside the body as well as on the skin. The important thing to remember is that the research for MTS is ongoing and in some cases, suspected MTS may help lead to testing for Lynch Syndrome in those who haven’t been diagnosed.

I’m writing about Muir-Torre Syndrome here, not to give those with Lynch Syndrome yet another thing to fret over, (heaven knows life with LS can feel like an endless series of pokes and prods in the name of medical vigilance) but to give you another tool to add to your toolbox of awareness. For those of you with an unconfirmed but suspected history of LS, perhaps this post will help you shed further light in tracking hereditary cancer down in your own family.

Mind your lumps and bumps, people!

NOTES:

1. I didn’t post any images of the skin lesions associated with Muir-Torre Syndrome because I don’t feel comfortable making the leap between online images and self-diagnosis. If you have any spots, irregularities, growths or lesions on your skin that are suspicious, please seek the advice of a medical professional.

2. Excellent information about Muir-Torre Syndrome can be found here:

Muir-Torre Syndrome at Cancer.net

Full Wikipedia page on Muir-Torre Syndrome

Muir-Torre Syndrome (including a break down of associated skin lesions by type) at DermNet NZ

3. Artwork for this post came from a gorgeous collection of Dermatology Art curated by Mayo Clinic Dermatologists.  “Dermatology Art Shows Beauty Really is Skin Deep.”