Muir-Torre syndrome
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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.
Etiology
- adenocarcinomas
- colorectal adenocarcinoma
- breast carcinoma
- lung adenocardinoma
- urogenital neoplasm
- hematologic malignancy[2]
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
- familial nonpolyposis colon cancer
- sebaceous gland disease
- skin disease (dermatologic disorder, dermatopathy, dermatosis)
References
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 171
- ↑ 2.0 2.1 Medical Knowledge Self Assessment Program (MKSAP) 11, 17. 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: https://www.ncbi.nlm.nih.gov/pubmed/18551751
Patient information
Muir-Torre syndrome patient information