Muir-Torre syndrome is a rare autosomal-dominant genodermatosis characterized by sebaceous neoplasms and one or more visceral malignancies. Because patients have germline mutations in the DNA mismatch repair genes MSH2 and MLH1, Muir-Torre syndrome is considered a phenotypic subtype of Lynch syndrome.
Ponti G, Losi L, Pedroni M, Lucci-Cordisco E, Di Gregorio C, Pellacani G, Seidenari S
タイトル
Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas.
