Multiple endocrine neoplasia type 2 history and symptoms: Difference between revisions
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{{CMG}}; {{AE}} {{Ammu}} | {{CMG}}; {{AE}} {{Ammu}} | ||
==Overview== | ==Overview== | ||
Symptoms of multiple endocrine neoplasia type 2 include [[headache]], hoarseness of voice, [[palpitation]]s, [[anxiety | Symptoms of multiple endocrine neoplasia type 2 include [[headache]], hoarseness of voice, [[palpitation]]s, [[anxiety]] and [[weight loss]]. | ||
==History== | ==History== | ||
==Diagnosis== | ==Diagnosis== | ||
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* Masses beneath mucosal surfaces in the [[mouth]], [[lip]]s, and [[eye]]s. Numerous yellowish-white, sessile, painless nodules on the [[lip]]s or [[tongue]], with deeper lesions having normal coloration. There may be enough [[neuroma]]s in the body of the [[lip]]s to produce enlargement and a "blubbery lip" appearance. Similar nodules may be seen on the [[sclera]] and [[eyelid]]s. | * Masses beneath mucosal surfaces in the [[mouth]], [[lip]]s, and [[eye]]s. Numerous yellowish-white, sessile, painless nodules on the [[lip]]s or [[tongue]], with deeper lesions having normal coloration. There may be enough [[neuroma]]s in the body of the [[lip]]s to produce enlargement and a "blubbery lip" appearance. Similar nodules may be seen on the [[sclera]] and [[eyelid]]s. | ||
* Low [[muscle]] mass, sometimes with [[myopathy]] | * Low [[muscle]] mass, sometimes with [[myopathy]] | ||
* [[Weight loss]] | * [[Weight loss]] | ||
* Delayed puberty | * Delayed puberty | ||
Revision as of 15:11, 30 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
Symptoms of multiple endocrine neoplasia type 2 include headache, hoarseness of voice, palpitations, anxiety and weight loss.
History
Diagnosis
The current clinical criterea for detecting Multiple endocrine neoplasia type 2 is as follows:[1]
| Clinical criterea for diagnosis of Multiple endocrine neoplasia type 2 |
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| 2 or more specific endocrine tumors (medullary thyroid carcinoma, pheochromocytoma or parathyroid hyperplasia) |
| Familial medullary thyroid carcinoma is diagnosed in families with four or more cases of medullary thryoid cacrinoma without pheochromocytoma and parathyroid adenoma |
| Multiple endocrine neoplasia type 2b is diagnosed if there is early onset of medullary throid carcinoma, mucosal neuromas of lips and tongue, disctinctive facial features with enlarged lips and marfanoid body habitus |
Symptoms
Constitutional Symptoms
- 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
- Weight loss
- Delayed puberty
- Sweating
- Hand tremor
- Sleeping difficulty
- Lethargy
Gastrointestinal Symptoms
- 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
- Diarrhea
- Abdominal pain
- Constipation
- Nausea
- Decreased appetite
Respiratory Symptoms
Cardiovascular Symptoms
- Chest pain
- Palpitations
- Anxiety often resembling that of a panic attack
- Diaphoresis
Neurologic Symptoms
Ophthalmology Symptoms
- Dry eyes or lack of tears, which is an especially helpful sign in children