Multiple endocrine neoplasia type 2 history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]
Overview
History
Symptoms
Multiple endocrine neoplasia type 2b
The most common clinical features of MEN2B are:
- Tall, thin, "marfanoid" body build, in which long bones are disproportionately elongated
- Masses beneath mucosal surfaces in the mouth, lips, and eyes. Numerous yellowish-white, sessile, painless nodules on the lips or tongue, with deeper lesions having normal coloration. There may be enough neuromas in the body of the lips to produce enlargement and a "blubbery lip" appearance. Similar nodules may be seen on the sclera and eyelids.
- Low muscle mass, sometimes with myopathy;
- Gastrointestinal complaints, especially constipation;
- Symptoms derived from medullary carcinoma of the thyroid;
- Symptoms derived from pheochromocytoma;
- Craniosynostosis;
- Dry eyes or lack of tears, which is an especially helpful sign in children;
- Delayed puberty