Purpose: To highlight the recognition and diagnosis of Muir-Torre syndrome (MTS) in patients with sebaceous tumors of the eyelid/conjunctiva and to determine the role of immunohistochemical markers as a screening test in patients with Muir-Torre syndrome. Design: Single interventional case report. Methods: The clinical and family history was reviewed from the records of a 41-year-old man who had a sebaceous gland adenoma of the tarsal conjunctiva of the left upper eyelid. The lesion was completely excised and submitted for histopathologic examination. Immunohistochemical stains using an antibody to MSH2 were performed on the paraffin-embedded sections of the tumor. Results: Histopathologic examination of the tumor showed a lobular pattern with basaloid cells at the periphery of the lobules with central areas of sebaceous differentiation. Immunohistochemical stains showed a lack of MSH2 expression in the tumor, which is highly consistent with MTS. Conclusions: Muir-Torre syndrome should be considered in patients initially seen with sebaceous tumors of the eyelid. Immunohistochemistry for MSH2 is a practical initial approach to screen for MTS in patients with sebaceous tumors.
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