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]

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
• A nodule, lump, or swelling in the neck
• Pain in the front of the neck
• Hoarseness or other voice changes
• Trouble swallowing
• Breathing problems
• Continuous cough
• Palpitations
• Anxiety often resembling that of a panic attack
• Diaphoresis
• Headaches
• Pallor
• Weight loss
• Craniosynostosis
• Dry eyes or lack of tears, which is an especially helpful sign in children
• Delayed puberty