Muir–Torre syndrome: case report

Joana Heitor, Unidades de Saúde Familiar (USF) Marginal, Unidade Local de Saúde de Lisboa Ocidental (ULSLO), Lisbon, Portugal Ana R. Afonso, USF Fonte de Água, ULSLO, Lisbon, Portugal Catarina Antunes, USF Fonte de Água, ULSLO, Lisbon, Portugal Catarina Correia, Dermatology Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHULN), Lisbon, Portugal André Lencastre, Department of Dermatology, Hospital de Cascais, Cascais, Portugal

Muir–Torre syndrome (MTS) is characterized by the association of at least one, but often multiple, sebaceous skin neoplasms, and at least one visceral neoplasm, usually colorectal. MTS should be suspected in the presence of multiple sebaceous tumors, particularly if they appear at an early age and are in extraocular areas. We report the case of a 52-year-old man with a personal history of sigmoid colon adenocarcinoma, referred to the Dermatology department, 8 years later, due to multiple facial sebaceous tumors. Considering the clinical presentation, as well as the personal and family history, MTS was suspected and later confirmed by genetic testing. Although rare, hereditary cancer predisposition syndromes remind us of the importance of patient’s global approach, especially those with cancer, allowing the early detection of potential carriers and promoting the health of their relatives.

Keywords: Muir–Torre syndrome. Lynch syndrome. Sebaceous adenoma. Colorectal carcinoma.