Clinical Manifestations

The defining features of MTS are at least one sebaceous adenoma, epithelioma, or carcinoma (excluding sebaceous hyperplasia and nevus sebaceous of Jadassohn) and at least one visceral cancer (7). Sebaceous tumors, of which sebaceous adenomas are most common, are usually located in the head and neck region and are often periocular. Sebaceous adenomas present as yellow papules or nodules and can be solitary or multiple (Fig. 3). Sebaceous carcinomas can be ocular or extraocular, both of which share a high risk of metastases to regional lymph nodes, bones, and viscera. Periocular sebaceous carcinomas can present as chronic blepharoconjunctivitis, recurrent chalazions, carbuncles, or painless nodules on the inner eyelid and are usually not associated with an underlying internal malignancy. However, because many patients with MTS have a sebaceous gland carcinoma, any sebaceous carcinoma must be considered as a possible marker for this syndrome.

KAs are seen in approximately 25% of patients with MTS and can also be solitary or multiple. KAs present as erythematous papules or nodules that arise within a few weeks and often have a central keratotic plug (Fig. 4).

The most commonly observed malignancies are colorectal carcinomas, which can be seen in more than 60% of patients and are usually located proximal to or at the splenic flexure, unlike colorectal cancer seen in the general population. The second most common site is the genitourinary tract, representing close to a quarter of all primary cancers in patients with MTS. Other cancers reported in patients with MTS include breast carcinomas, hematologic malignancies, head and neck cancers, lung carcinoma, chondrosarcoma, and neoplasms of the small intestine. More than one-third of patients with MTS have two or three visceral malignancies.

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