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Muir-Torre syndrome

Disease definition

A form of hereditary nonpolyposis colon cancer characterized by the development of cutaneous sebaceous neoplasia and at least one visceral malignancy, most frequently gastrointestinal carcinoma. 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. Multiple keratoacanthomas, usually located on the face or the trunk, have been reported as a feature. Cutaneous tumors may precede or follow the first presentation of internal malignancy, which usually involves the gastrointestinal tract, the breast or the genitourinary tract.

ORPHA:587

Classification level: Disorder
  • Synonym(s):
    • Multiple keratoacanthoma, Muir-Torre type
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: L72.8
  • OMIM: 158320
  • UMLS: C1321489
  • MeSH: D055653
  • GARD: 6821
  • MedDRA: 10063042

Detailed information

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