Article
The Reality of Multiple Endocrine Neoplasia Type 2B Diagnosis: Awareness of Unique Physical Appearance Is Important.
Journal of Nippon Medical School = Nippon Ika Daigaku zasshi - 1 Jan 2018
Nagaoka Ryuta, Sugitani Iwao, Sanada Marie, Jikuzono Tomoo, Okamura Ritsuko, Igarashi Takehito, Akasu Haruki, Shimizu Kazuo
Abstract excerpt
BACKGROUND: Multiple endocrine neoplasia type 2B (MEN2B) is an extremely rare syndrome mainly caused by RET918 germline mutations. MEN2B typically causes medullary thyroid carcinoma (MTC), pheochromocytoma, and unique physical characteristics including mucosal neuroma, distinctive facial appearance, and Marfanoid habitus. Most patients have abdominal symptoms such as bloating, intermittent constipation, and...
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