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Muir-Torre syndrome


Tuesday 4 May 2004

Definition: The Muir-Torre syndrome is an autosomal-dominant genodermatosis characterized by the presence of sebaceous gland tumors, with or without keratoacanthomas, associated with visceral malignancies.


-  sebaceous carcinoma in Muir-Torre syndrome


- early onset colonic diverticula
- cutaneous tumors

  • sebaceous gland tumors (sebaceous tumors)
    • sebaceous adenomas
    • sebaceous carcinomas

- visceral tumors

  • colorectal adenocarcinoma
  • duodenal carcinoma
  • laryngeal carcinoma
  • benign gastrointestinal tract tumors
  • benign genitourinary tract tumors
  • mammary carcinomas (breast cancer)


Muir-Torre syndrome is part of the Lynch cancer family syndrome II (MIM.114400)

- mutations in the MSH2 gene (MIM.120435) located on 2p
- mutations in the MLH1 gene (MIM.120436) located on 3p


- Kruse R, Ruzicka T. DNA mismatch repair and the significance of a sebaceous skin tumor for visceral cancer prevention. Trends Mol Med. 2004 Mar;10(3):136-41. PMID: 15102357