Multiple Endocrine Neoplasia Type 2B

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Multiple endocrine neoplasia type 2 (MEN 2) is a distinct hereditary syndrome that has an autosomal pattern of inheritance (OMIM 2005). There have been 500-1000 MEN 2 kindreds reported in the literature. The MEN 2 syndrome consists of three variants: MEN 2A, MEN 2B and familial medullary thyroid cancer (Table 1). Patients with MEN 2B develop medullary thyroid cancer (100%), pheochromocytoma, mucocutaneous neuromas and have characteristic physical features. MEN 2B accounts for 5–10% of MEN 2 cases. In patients with MEN 2B, neuromas may involve the skin, musculoskeletal system, gastrointestinal tract and eyes (Schimke et al. 1968, Williams and Pollock 1966a).