muir torre syndrome - Health Topics
Muir-Torre syndrome is rare genetic condition that predisposes you to developing multiple types of cancer. People with MTS develop skin tumors together with one or more internal cancerous tumors, most commonly colorectal cancer. Muir-Torre syndrome is currently described as a phenotypic variant of Lynch syndrome, representing 1–2% of cases.
Understanding the Context
It is usually due to mutations in the MSH2 gene (90%). Muir–Torre syndrome is a rare hereditary, autosomal dominant cancer syndrome [1]: 663 that is thought to be a subtype of HNPCC (Lynch syndrome). Individuals are prone to develop cancers of the colon, genitourinary tract, and skin lesions, such as keratoacanthomas and sebaceous tumors. This topic will discuss the pathogenesis, clinical features, diagnosis, and management of Muir-Torre syndrome.
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Key Insights
Lynch syndrome and MUTYH- associated polyposis are discussed separately. Muir-Torre syndrome is a rare genetic condition that raises the risk of getting certain skin tumors and internal cancer like colon or uterine cancer. As a subtype of Lynch syndrome, it occurs because of changes (mutations or pathogenic variants) in genes that normally help fix mistakes in DNA. Muir-Torre syndrome (MTS) is the combination of neoplasms of the skin (usually sebaceous adenoma, sebaceous epithelioma, or sebaceous carcinoma, but also keratoacanthoma) and a visceral... It is caused by mutations in DNA mismatch repair (MMR) genes, which are responsible for correcting errors that occur during DNA replication.
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The syndrome is named after Dr. Henry Muir and Dr. William Torre, who first described the condition in the 1970s. Muir-Torre syndrome (MTS) is a rare, inheritable condition that causes the growth of tumors on the skin and in internal organs. Treatment to remove cancerous tumors and stop their spread can help improve the outlook for people with MTS. Muir-Torre syndrome (MRTES) is an autosomal dominant disorder characterized by development of sebaceous gland tumors and skin cancers, including keratoacanthomas and basal cell carcinomas.