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Book

Muir-Torre Syndrome

John T. Gay  1 , Todd Troxell  2 , Gary P. Gross  1
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
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Book

Muir-Torre Syndrome

John T. Gay et al.
Free Books & Documents

Excerpt

Muir-Torre syndrome (MTS) was first described by Muir et al. in 1967 and, independently, by Torre et al. one year later in 1968. Muir-Torre Syndrome is an autosomal dominant disorder that is a phenotypic variant of hereditary non-polyposis colorectal cancer (HNPCC) which is also known as Lynch syndrome. It is caused by mutations in DNA mismatch repair genes which results in microsatellite instability. The hallmark features of Muir-Torre syndrome are sebaceous neoplasms of the skin and visceral malignancies with colonic carcinoma being the most common. The association of mismatch repair gene mutations and visceral malignancies warrants an earlier and more frequent evaluation for malignancy.

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Conflict of interest statement

Disclosure: John Gay declares no relevant financial relationships with ineligible companies.

Disclosure: Todd Troxell declares no relevant financial relationships with ineligible companies.

Disclosure: Gary Gross declares no relevant financial relationships with ineligible companies.

References

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