Home > D. General pathology > Genetic and developmental anomalies > Muir-Torre syndrome
Muir-Torre syndrome
MIM.158320
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.
Images
sebaceous carcinoma in Muir-Torre syndrome
- https://twitter.com/Konzult_/status/723984883744428033
- https://twitter.com/KUSAURAP/status/695107281730433024
- https://twitter.com/Levelsx5/status/735204830055137280
Synopsis
early onset colonic diverticula
cutaneous tumors
- sebaceous gland tumors (sebaceous tumors)
- sebaceous adenomas
- sebaceous carcinomas
- keratoacanthomas
- basal cell carcinoma
visceral tumors
- colorectal adenocarcinoma
- duodenal carcinoma
- laryngeal carcinoma
- benign gastrointestinal tract tumors
- benign genitourinary tract tumors
- mammary carcinomas (breast cancer)
Etiology
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
References
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