Muir Torre Syndrome
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Contents |
Introduction
- An expression of the Lynch II cancer family syndrome, with association of certain types of sebaceous neoplasms of the skin, with or without keratoacanthomas, with one or more low-grade visceral malignancies in the absence of other predisposing factors.
Pathology
- sebaceous & skin tumors
- adenomatous polyps of the colon
- underlying malignancies
- carcinoma of the colon (most common)
- breast cancer
- hematologic malignancies
Genetics
- autosomal dominant inheritance
- mutations in MLH1 or MLH2 genes seen
- defects in DNA mismatch repair
Clinical-manifestations
- may have single or numerous lesions
- keratoacanthomas of the skin
Diagnostic-procedures
- colonoscopy at the time of diagnosis
More General Terms
- intestinal polyposis syndrome; hereditary colorectal carcinoma
- sebaceous gland disease
- skin disease (dermatologic disorder, dermatopathy, dermatosis)
Internet Database
OMIM: 158320
References
- Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 171
- Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998
- Singh RS et al, Site and tumor type predicts DNA mismatch repair status in cutaneous sebaceous neoplasia. Am J Surg Pathol 2008 Jun; 32:936 PMID: [1]
