Muir-Torre syndrome

Muir-Torre syndrome is a hereditary condition that is considered a variant of hereditary nonpolyposis colon cancer (HNPCC). It is characterized by the presence of skin tumors, especially those originating from sebaceous glands and keratoacanthomas, along with at least one internal (visceral) malignancy. The most common internal cancer seen in people with Muir-Torre syndrome is a gastrointestinal carcinoma. Because it is a genetic condition, Muir-Torre syndrome can run in families. Understanding this syndrome is important, as it helps in identifying individuals who may be at increased risk for developing both skin and internal cancers. Early recognition allows for appropriate monitoring and intervention.

People with Muir-Torre syndrome may notice skin changes such as sebaceous tumors and keratoacanthomas. In addition, there is often an association with an internal cancer, most commonly a gastrointestinal tumor.

Muir-Torre syndrome is caused by genetic factors. Changes in the MLH1 and MSH2 genes are known to play a key role in the development of this condition. These genetic alterations are also associated with hereditary nonpolyposis colon cancer, linking the skin tumors with internal malignancies.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.