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Metachronous occurrence of colorectal cancer in a muir-torre syndrome patient presenting with recurrent sebaceous adenoma of the eyelid: case report and updated review of the literature

Christos Agiannidis, Zoe D Pana, Dimitra Molyva, Konstantinos Kalokasidis, Maria Mixiou
Journal of Cutaneous Medicine and Surgery 2012, 16 (6): 394-9

BACKGROUND: Muir-Torre syndrome (MTS) is a rare genodermatosis considered a subtype of hereditary nonpolyposis colorectal cancer and traditionally associated with mutations in the mismatch repair genes.

OBJECTIVE: We describe a 51-year-old male with primary manifestations of recurrent sebaceous adenoma of the upper eyelid, a positive cancer family history, and metachronous occurrence of colorectal cancer.

METHOD: The diagnosis of MTS was established based on the clinical course, family history, and histopathologic findings, although further immunohistologic testing revealed the absence of MSH2 mutation. We additionally performed an updated summary of published MTS cases with sebaceous neoplasms originating from the eyelid and conjunctiva for the period 2005 to 2011.

CONCLUSION: This patient, the second Greek case described in the international literature, is of interest mainly because of the metachronous occurrence of the visceral malignancy in combination with the absence of MSH2 mutation. The need for high clinical suspicion for MTS in cases with sebaceous lesions of the periocular region should therefore be reinforced regardless of the mutational screening test undertaken.

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