Muir-Torre syndrome is a rare variant of hereditary nonpolyposis colorectal cancer (HNPCC), characterised by sebaceous neoplasms (e.g adenoma, epithelioma or carcinoma) and keratoacanthocytomas as well as at least one internal malignancy:
- gastrointestinal malignancies (most common of internal malignancies 3): especially right-sided colorectal carcinoma (CRC)
- urogenital malignancies (second most common)
- breast cancer (3rd most common)
- haematological malignancies 3
It has a male to female ratio of approximately 2:1
It has an autosomal dominant inheritance with variable penetrance.
History and etymology
It was first described by E.G Muir in 1967 and D.Torre in 1968.
- 1. Hauser SC, Pardi DS, Poterucha JJ et-al. Mayo Clinic gastroenterology and hepatology board review. CRC Press. (2004) ISBN:0849320542. Read it at Google Books - Find it at Amazon
- 2. Kumar V, Abbas AK, Fausto N. Robbins and Cotran pathologic basis of disease. W B Saunders Co. (2005) ISBN:0721601871. Read it at Google Books - Find it at Amazon
- 3. Propeck PA, Warner T, Scanlan KA. Sebaceous carcinoma of the breast in a patient with Muir-Torre syndrome. AJR Am J Roentgenol. 2000;174 (2): 541-2. AJR Am J Roentgenol (full text) - Pubmed citation