Muir-Torre syndrome

Muir-Torre syndrome is a rare familial and sporadic tumor disease that has been reported in 205 cases so far. It is characterized by keratoacanthomas, multiple sebaceous neoplasms and carcinomas of internal organs.

The manifestation peak of malignancy is an average of 53 years. About ten years before the appearance of the internal tumors, skin lesions become noticeable.

The cause of the autosomal dominant syndrome is a mutation of the hMSh2 gene with consecutive DNA mismatch repair.

About 60% of affected patients develop metastases during the course of the disease.