[Female patient with Muir-Torre syndrome]

Abstract

Muir-Torre syndrome is a rare form of genodermatosis characterized by sebaceous tumours or keratocanthoma and early occurrence of intestinal malignancies. In addition to the patient history immunohistochemical and genetic analysis for microsatellite instability and reduced expression of the mismatch repair gene MSH2 and MLH1 can be used to confirm the diagnosis. Because of this important association, Muir-Torre syndrome should be excluded if a patient presents with a sebaceous tumour.