Multiple endocrine neoplasia type 2 history and symptoms: Difference between revisions

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===Multiple endocrine neoplasia type 2b===
===Multiple endocrine neoplasia type 2b===
The most common clinical features of MEN2B are:
The most common clinical features of MEN2B are:
* a tall, thin, "[[Marfan syndrome|marfanoid]]" body build, in which long bones are disproportionately elongated;
* Tall, thin, "[[Marfan syndrome|marfanoid]]" body build, in which long bones are disproportionately elongated
* masses beneath mucosal surfaces in the mouth, lips, and eyes (discussed below);
* 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 [[neuroma]]s 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;
* Low muscle mass, sometimes with myopathy;
* gastrointestinal complaints, especially constipation;
* Gastrointestinal complaints, especially constipation;
* symptoms derived from [[medullary carcinoma of the thyroid]];
* Symptoms derived from [[medullary carcinoma of the thyroid]];
* symptoms derived from [[pheochromocytoma]];
* Symptoms derived from [[pheochromocytoma]];
* [[craniosynostosis]];
* [[Craniosynostosis]];
* dry eyes or lack of tears, which is an especially helpful sign in children;
* Dry eyes or lack of tears, which is an especially helpful sign in children;
* delayed puberty.
* Delayed puberty

Revision as of 17:51, 15 September 2015

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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