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Muir-Torre syndrome

Orpha number ORPHA587
Synonym(s) Multiple keratoacanthoma, Muir-Torre type
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Adult
  • C44
  • D23
  • C1321489
  • D055653
  • 10063042
  • 403824007


Muir-Torre syndrome represents the association of multiple sebaceous tumors (hyperplasia, adenoma, epithelioma and carcinoma), or keratoacanthoma (KA) with one or more visceral carcinomas.

This syndrome is very rare.

The malignancies are usually multiple, occur at an early age, but tend to be of low-grade and have a relatively low incidence of metastases. Sebaceous tumors are usually multiple, with sebaceous adenomas being the commonest. KA, 3-10 in number, are usually located on the face or the trunk. Cutaneous tumors may precede or follow the first presentation of internal malignancy, which usually involves the gastrointestinal tract, the breast or the genitourinary tract.

Muir-Torre syndrome is dominantly inherited. It is caused by a mutation in DNA mismatch repair genes (hMLH1 at 3p21.3 or hMSH2 at 2p22-p21). Muir-Torre is therefore allelic to hereditary nonpolyposis colorectal cancer (HNPCC).

The management should be multidisciplinary including genetic counselling, regular dermatology follow-up and relevant cancer screening.

Expert reviewer(s)

  • Dr Evangelia BOZI
  • Dr Alexander C KATOULIS
  • Pr Nikolaos G STAVRIANEAS

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Detailed information

Article for general public
  • FR (2010)
Clinical genetics review
  • EN (2014)
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