Muir-Torre syndrome

Last revised by Daniel J Bell on 1 Feb 2019

Muir-Torre syndrome is a rare variant of hereditary nonpolyposis colorectal cancer (HNPCC),  characterized by sebaceous neoplasms (e.g adenoma, epithelioma or carcinoma) and keratoacanthocytomas as well as at least one internal malignancy:

  • gastrointestinal malignancies (most common of internal malignancies 3): especially right-sided colorectal carcinoma (CRC)
  • urogenital malignancies (second most common)
  • breast cancer (3rd most common)
  • hematological malignancies 3

It has a male to female ratio of approximately 2:1

It has an autosomal dominant inheritance with variable penetrance.

It was first described by EG Muir in 1967 and  D Torre in 1968.

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