Muir-Torre syndrome is a rare genetic condition characterized by the presence of one or more sebaceous tumors of the skin along with a visceral cancer, like colorectal cancer. It was first identified in the 1960s and involves a very small number of patients. People with Muir-Torre syndrome can be diagnosed at any age, although they tend to be older when the cancer initially onsets, and there are a number of treatments available. Oncologists usually supervise care, and patients may also consult with a geneticist to get more information about the risks of inheritance associated with the cancer.
This condition appears to be an unusual subtype of hereditary nonpolyposis colorectal cancer (HNPCC), a genetic syndrome that has been identified and extensively discussed in medical literature. It is a dominant genetic trait, and people only need to inherit one copy of the defective gene for the syndrome to express. Having the gene does not necessarily mean a person will develop cancer, but it does substantially increase risks of having cancer.
Patients with Muir-Torre syndrome may notice the sebaceous tumors first, because they are highly visible. They can appear anywhere on the body and may vary in size and shape. Additional medical screening can reveal the presence of intestinal, stomach, or rectal cancers. Urinary cancer is also a potential concern. More rarely, Muir-Torre syndrome patients have brain cancers; their risk of brain cancer is slightly higher than that of the general population.
Treatment usually involves excision of the tumors, with additional care such as chemotherapy and radiation being an option in some cases. The earlier the cancer is identified, the more effective the treatment will be, as many treatments depend on early diagnosis for the most comprehensive results. If the internal cancer has an opportunity to metastasize to other organs, it can be difficult to combat and the risk of recurrence increases radically. When patients are diagnosed, they can discuss options for treating and managing the cancer on the basis of the location, stage, and type.
People with a family history of any cancer should make sure their care providers are aware and get information on whether special screening or evaluation is recommended. Familial histories of cancer radically increase the chances of developing cancer. For people in families where Muir-Torre syndrome is a documented issue, regular cancer screening may start at a younger age in order to catch malignant growths as early as possible.
