Sebaceous gland tumors of the eyelids and conjunctiva in the Muir-Torre syndrome: a clinicopathologic study of five cases and literature review.

PURPOSE: To study the sebaceous tumors of eyelid/conjunctiva associated with Muir-Torre syndrome (MTS) and to determine the role of immunohistochemical markers (MSH2, mismatch repair gene) in the diagnosis of patients with MTS.
METHODS: A retrospective, noncomparative case series of 5 patients diagnosed with MTS from our laboratory. We also reviewed all previously reported cases of sebaceous eyelid tumors with a visceral malignancy.
RESULTS: Four of the 5 patients were men, with a mean age of 55 years (range, 41 to 76 years). Four of the 5 patients had gastrointestinal carcinoma. On histopathological examination, 4 of the 5 tumors were classified as sebaceous adenomas that exhibited a distinct lobular pattern with prominent basaloid cells at the periphery of the lobules. One tumor was classified as a well-differentiated sebaceous gland adenocarcinoma. The diagnosis of MTS in all 5 patients was made after the diagnosis of the eyelid lesions. Immunohistochemical stains showed a lack of MSH2 expression in two tumors, which is highly consistent with MTS.
CONCLUSIONS: Muir-Torre syndrome should be considered in patients who develop sebaceous tumors of the ocular adnexa. Immunohistochemistry for MSH2 is a practical initial approach for screening MTS in patients with sebaceous tumors.