Muir-Torre syndrome

Muir-Torre syndrome is an autosomal dominant cancer syndrome expressed clinically as cutaneous tumours (sebaceous neoplasms or multiple keratoacanthomas) and visceral malignant disease.1,2 It is related to Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer), which accounts for 3...

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Bibliographic Details
Published in:Canadian Medical Association journal (CMAJ) 2016-03, Vol.188 (5), p.E95-E95
Main Authors: Mintsoulis, Danielle, Beecker, Jennifer
Format: Article
Language:English
Subjects:
Adenoma - pathology
Biopsy
Cancer
Diagnosis
Facial Neoplasms - pathology
Female
Genes
Genetic testing
Humans
Middle Aged
Muir-Torre syndrome
Muir-Torre Syndrome - pathology
Practice
Sebaceous Gland Neoplasms - pathology
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Description
Summary:Muir-Torre syndrome is an autosomal dominant cancer syndrome expressed clinically as cutaneous tumours (sebaceous neoplasms or multiple keratoacanthomas) and visceral malignant disease.1,2 It is related to Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer), which accounts for 3%-5% of all colorectal cancers.3 Both Muir-Torre and Lynch syndromes are linked to germline mutations in the DNA mismatch repair genes MLH1, MLH3, MSH2 and MSH6.2,3 Sebaceous neoplasms occur in 9% of patients with Lynch syndrome.2 In patients with Muir-Torre syndrome, sebaceous neoplasms appear as pink-to-yellowish papules or nodules,1 which may precede visceral malignant disease in 22%-60% of patients.2
ISSN:0820-3946
1488-2329
DOI:10.1503/cmaj.150171