Muir-Torre syndrome

Daniel Navi, Akhil Wadhera, Maxwell A Fung, Nasim Fazel

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


A 65-year-old man with a history of multiple neoplastic and preneoplastic gastrointestinal lesions as well as urogenital carcinoma presented for evaluation of two asymptomatic skin-colored papules in the head and neck region. Biopsy revealed sebaceous neoplasms and immunohistochemical staining was negative for the presence of hMSH-2 protein in both specimens. These findings were consistent with a diagnosis of Muir-Torre syndrome in the setting of a prior history of visceral malignancies. Muir-Torre Syndrome is a rare autosomal dominant genodermatosis associated with mutations in mismatch repair proteins, hMSH-2 and hMLH-1, which predispose affected patients to visceral malignancies as well as sebaceous gland neoplasms.

Original languageEnglish (US)
Article number4
JournalDermatology Online Journal
Issue number5
StatePublished - 2006

ASJC Scopus subject areas

  • Dermatology


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