Patients with Muir-Torre Syndrome develop sebaceous neoplasms as well as one or more visceral malignancies.  Our dermatopathologists screen sebaceous neoplasms using immunohistochemistry stains to evaluate for loss of expression of DNA mismatch repair proteins MLH1, MSH2, MSH6, and PMS2.  Loss of expression of one or more of these markers has been reported in sebaceous neoplasms of patients with Muir-Torre Syndrome.  Because the development of the sebaceous skin tumors can precede the presentation of the visceral malignancy, these studies may be an important first step in identifying patients with Muir-Torre Syndrome.

For an excellent review of sebaceous neoplasms and Muir-Torre syndrome, please visit the links to the articles below:

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