Muir-Torre syndrome

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: 1) sebaceous & skin tumors a) sebaceous adenomas b) epitheliomas c) keratoacanthomas d) basal & squamous cell carcinomas 2) adenomatous polyps of the colon 3) underlying malignancies a) carcinoma of the colon (most common) b) breast cancer c) hematologic malignancies Genetics: - autosomal dominant inheritance - mutations in MLH1 or MLH2 genes seen - defects in DNA mismatch repair Clinical manifestations: 1) may have single or numerous lesions 2) keratoacanthomas of the skin Special laboratory: - colonoscopy at the time of diagnosis

General

familial nonpolyposis colon cancer; hereditary nonpolyposis colorectal cancer (HNPCC); Lynch syndrome; cancer family syndrome sebaceous gland disease skin disease (dermatologic disorder, dermatopathy, dermatosis)

Properties

ASSOCIATED-NEOPLASM[S]: adenocarcinoma of the colon sebaceous carcinoma sebaceous epithelioma sebaceous adenoma basal cell carcinoma keratoacanthoma (KA) DUODENAL-CARCINOMA laryngeal carcinoma BENIGN-GASTROINTESTINAL-TRACT-TUMORS BENIGN-GENITOURINARY-TRACT-TUMORS MALIGNANT-GASTROINTESTINAL-TRACT-TUMORS MALIGNANT-GENITOURINARY-TRACT-TUMORS breast cancer