A Muir-Torre syndrome family

Abstract

The Muir-Torre syndrome is a rare autosomal-dominant disease involving sebaceous neoplasms as markers for multiple internal malignancies. Diagnostic criteria include at least one sebaceous gland adenoma, epithelioma, or carcinoma and at least one internal malignancy. The world literature contains 162 cases with 316 internal malignancies. Colorectal and urogenital malignancies predominate, and nearly half the patients had two or more internal cancers. The discovery of a Muir-Torre syndrome-associated sebaceous lesion is rare and should prompt an evaluation for internal malignancies. We report a family over five generations displaying this syndrome. The proband is a 44-year-old man with two skin and two colon malignancies who presented to our clinic with the chief complaint of an infected sebaceous cyst. The world literature is reviewed, and an emphasis on the surgeon's role in evaluation and treatment is discussed.