关键词: Muir-Torre综合征, Lynch综合征, 皮肤肿瘤, 内脏肿瘤, DNA错配修复基因

Abstract: Muir-Torre syndrome, one subtype of Lynch syndrome (hereditary non-polyposis colorectal carcinoma), is a rare and autosomal dominant condition characterized by the presence of a skin tumor of sebaceous differentiation or keratoacanthomas complicated with at least one visceral malignancy. Its genetic characteristic is the germline mutation in the DNA mismatch repair.  The update of epidemiology, genetic researches, clinical features, prevention and treatments of Muir-Torre syndrome is reviewed in this paper.

Key words: Muir-Torre syndrome, Lynch syndrome, skin tumors, visceral tumors, DNA mismatch repair genes