Abstract: Muir-Torre syndrome (MTS) is a rare genetic entity. The occurrence of the disease is associated with the germline mutations in the DNA mismatch repair. Clinical manifestations include skin tumor (mainly being sebaceous adenoma) and internal malignancy (mainly being gastrointestinal malignant tumors). Immunohistochemical and genetic tests are diagnostic. The patients need to be treated with surgery and chemical treatment after diagnosis.

Key words: Muir-Torre syndrome, sebaceous neoplasms, microsatellite instability