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, | Symptoms of multiple endocrine neoplasia type 2 include [[headache]], hoarseness of voice, [[palpitation]]s, [[anxiety]], [[pallor]] and [[weight loss]]. | ||
==History== | ==History==] | ||
==Diagnosis== | ==Diagnosis== | ||
The current clinical criterea for detecting Multiple endocrine neoplasia type 2 is as follows:<ref name=Genetics>{{cite web | title = Genetics-University of Washington, Seattle) | url =http://www.ncbi.nlm.nih.gov/books/NBK1116/}}</ref> | The current clinical criterea for detecting Multiple endocrine neoplasia type 2 is as follows:<ref name=Genetics>{{cite web | title = Genetics-University of Washington, Seattle) | url =http://www.ncbi.nlm.nih.gov/books/NBK1116/}}</ref> | ||
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! style="padding: 0 5px; font-size: 120%; background: #4479BA" align=left| ''{{fontcolor|#FFF|Clinical criterea for diagnosis of Multiple endocrine neoplasia type 2}}'' | ! style="padding: 0 5px; font-size: 120%; background: #4479BA" align=left| ''{{fontcolor|#FFF|Clinical criterea for diagnosis of Multiple endocrine neoplasia type 2}}'' | ||
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! style="padding: 0 5px; font-size: 95%; background: #DCDCDC" align=left| '''2 or more specific endocrine tumors (medullary carcinoma, pheochromocytoma or parathyroid hyperplasia)''' | ! style="padding: 0 5px; font-size: 95%; background: #DCDCDC" align=left| '''2 or more specific endocrine tumors ([[medullary thyroid carcinoma]], [[pheochromocytoma]] or [[parathyroid hyperplasia]])''' | ||
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! style="padding: 0 5px; font-size: 95%; background: #DCDCDC" align=left | '''Familial medullary thyroid carcinoma is diagnosed in families with four or more cases of medullary thryoid cacrinoma without pheochromocytoma and parathyroid adenoma''' | ! style="padding: 0 5px; font-size: 95%; background: #DCDCDC" align=left | '''Familial medullary thyroid carcinoma is diagnosed in families with four or more cases of [[medullary thryoid cacrinoma]] without [[pheochromocytoma]] and [[parathyroid]] [[adenoma]]''' | ||
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! style="padding: 0 5px; font-size: 95%; background: #DCDCDC" align=left | '''Multiple endocrine neoplasia type 2b is diagnosed if there is early onset of medullary throid carcinoma, mucosal | ! style="padding: 0 5px; font-size: 95%; background: #DCDCDC" align=left | '''Multiple endocrine neoplasia type 2b is diagnosed if there is early onset of [[medullary throid carcinoma]], [[mucosal neuroma]]s of [[lip]]s and [[tongue]], disctinctive facial features with enlarged [[lip]]s and [[marfanoid body]] habitus'''}} | ||
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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: | ||
* Tall, thin, "[[Marfan syndrome|marfanoid]]" body build, in which long | * Tall, thin, "[[Marfan syndrome|marfanoid]]" body build, in which long [[bone]]s are disproportionately elongated | ||
* Masses beneath mucosal surfaces in the mouth, | * 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]] | ||
* Gastrointestinal complaints, especially constipation | * Gastrointestinal complaints, especially [[constipation]] | ||
* A nodule, [[lump]], or swelling in the neck | * A nodule, [[lump]], or swelling in the [[neck]] | ||
* [[Pain]] in the front of the neck | * [[Pain]] in the front of the [[neck]] | ||
* [[Hoarseness]] or other voice changes | * [[Hoarseness]] or other voice changes | ||
* Trouble swallowing | * Trouble [[swallowing]] | ||
* Breathing problems | * Breathing problems | ||
* Continuous [[cough]] | * Continuous [[cough]] | ||
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* [[Weight loss]] | * [[Weight loss]] | ||
* [[Craniosynostosis]] | * [[Craniosynostosis]] | ||
* Dry | * [[Dry eye]]s or lack of tears, which is an especially helpful sign in children | ||
* Delayed puberty | * Delayed puberty | ||
==References== | ==References== |
Revision as of 16:37, 28 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, pallor 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 |
---|
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
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