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Keywords

Hereditary Nonpolyposis Colorectal Cancer Syndrome, Keratoacanthoma, Lynch Syndrome, Muir-Torre Syndrome, Sebaceous Adenoma

 

Authors

  1. Roybal, Lacey
  2. Carlson, Kim

Abstract

ABSTRACT: Muir-Torre syndrome is a rare autosomal dominant condition characterized by the development of internal malignancies and sebaceous neoplasms. The most common visceral malignancies associated with the disease are colon cancer, genitourinary cancer, breast cancer, and gastric cancer. The head and neck are the major locations for the development of sebaceous adenomas, sebaceous carcinomas, sebaceous epitheliomas, and keratoacanthomas. Muir-Torre syndrome is a variant of hereditary nonpolyposis colorectal cancer syndrome, which is caused by mutations in the mismatch repair genes leading to DNA mutations and microsatellite instability. It is important for clinicians to be able to recognize the clinical features of Muir-Torre syndrome to accurately diagnose and treat the cutaneous manifestations as well as the underlying malignancies associated with this condition.