The diagnosis of MTS is based on the presence of a cutaneous sebaceous adenoma, sebaceous epithelioma, basal cell epithelioma with sebaceous differentiation, KA with sebaceous differentiation, or sebaceous carcinoma, and at least one visceral malignancy, in the absence of another probable cause (Table 2). The cutaneous sebaceous adenoma is probably the most sensitive marker for MTS, but any sebaceous neoplasm except sebaceous hyperplasia or nevus sebaceous of Jadassohn should raise the possibility of MTS. Multiple primary malignancies, especially if low grade, as well as multiple KAs, should prompt consideration of MTS. Seboacanthoma, a type of sebaceous adenoma, may be specific to this syndrome. Additionally, it has been suggested that cystic sebaceous
FIGURE 3 Multiple skin-colored, pearly papules representing sebaceous adenomas and carcinomas in a patient with Muir-Torre syndrome. Courtesy of Dr. Daniel Synkowski, University of California San Diego.
tumors, many of which exhibit the microsatellite instability characteristic to this syndrome, may be a marker for the mismatch-repair defect seen in MTS.
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