Muir-torre syndrome: a case report

Abstract

Muir-Torre syndrome is an autosomal dominant genodermatosis associated with sebaceous neoplasms and visceral malignancies. Characteristic sebaceous neoplasms include sebaceous adenoma, sebaceous carcinoma, sebaceoma, and keratoacanthoma with sebaceous differentiation. The most common visceral malignancies are colorectal and genitourinary tumors. Investigations into the molecular genetics of Muir-Torre Syndrome have revealed an association with germ-line mutations in hMSH2 and hMLH1 genes. The clinical and histological features of a patient with Muir-Torre syndrome who had two sebaceous adenomas, multiple basal cell carcinomas, and frontal bossing in association with colon cancer are presented in this report.

Figure 1

Patient at presentation. An incidental finding of an unusually prominent forehead and heavier-than-normal brow ridge known as frontal bossing.

Figure 2

H&E, original magnification x100. Shave biopsy of the left jaw line showing numerous pyriform sebaceous lobules associated with an increased number of immature sebocytes at their periphery. The lobules are oriented perpendicularly to the skin surface.

Figure 3

H&E, original magnification x200. Shave biopsy of sebaceous adenoma showing increased number of darker germinative cells at the periphery of the sebaceous lobules.