Muir-Torre syndrome: a case report and review of the literature

Turk J Gastroenterol. 2012 Aug;23(4):394-8. doi: 10.4318/tjg.2012.0411.

Abstract

Muir-Torre syndrome is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous gland neoplasm associated with visceral malignancies. Most patients present with sebaceous adenomas, but cystic sebaceous neoplasms have been reported as specific markers of the syndrome. Gastrointestinal and genitourinary cancers are the most common internal malignancies. Colorectal cancer is the commonest visceral neoplasm in Muir-Torre syndrome patients. In this case report, we describe a rare case of Muir-Torre syndrome associated with colon cancer, and we demonstrate the important role of the dermatopathologist in alerting the clinician to the possibility of Muir-Torre syndrome when the diagnosis of sebaceous neoplasm is made.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adenocarcinoma / pathology*
  • Adenocarcinoma / surgery
  • Adenoma / pathology*
  • Adenoma / surgery
  • Carcinoma, Basal Cell / pathology*
  • Carcinoma, Basal Cell / surgery
  • Carcinoma, Squamous Cell / pathology*
  • Carcinoma, Squamous Cell / surgery
  • Humans
  • Male
  • Middle Aged
  • Muir-Torre Syndrome / genetics
  • Muir-Torre Syndrome / pathology*
  • Muir-Torre Syndrome / surgery
  • Neoplasms / genetics
  • Neoplasms / pathology*
  • Neoplasms / surgery