Multiple endocrine neoplasia type 1 differential diagnosis: Difference between revisions
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{{Multiple endocrine neoplasia type 1}} | {{Multiple endocrine neoplasia type 1}} | ||
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==Overview== | ==Overview== |
Revision as of 18:49, 16 October 2017
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Differentiating Multiple endocrine neoplasia type 1 from other Diseases |
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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
Multiple endocrine neoplasia type 1 must be differentiated from other hereditary diseases such as von Hippel-Lindau syndrome, tuberous sclerosis, carney complex, neurofibromatosis type 1, Li-Fraumeni syndrome, multiple endocrine neoplasia type 2, familial hyperparathyroidism, pheochromocytoma and acromegaly.
Differential Diagnosis
Multiple endocrine neoplasia type 1 must be differentiated from the hereditary diseases shown in the table below.
Disease | Definition | Gene | Chromosome | Differentiating Features | Components of MEN | ||
---|---|---|---|---|---|---|---|
Parathyroid | Pitutary | Pancreas | |||||
von Hippel-Lindau syndrome | autosomal dominant | Von Hippel–Lindau tumor suppressor | 3p25.3 |
|
+ | ||
Carney complex | autosomal dominant | PRKAR1A | 17q23-q24 |
|
- | - | - |
Neurofibromatosis type 1 | autosomal dominant | 17 | - | - | - | ||
Li-Fraumeni syndrome | autosomal dominant | TP53 | 17 | Early onset of diverse amount of cancers such as | - | - | - |
Gardner's syndrome | autosomal dominant | APC | 5q21 |
|
- | - | - |
Multiple endocrine neoplasia type 2 | autosomal dominant disorder characterized by | RET |
|
+ | - | - | |
Cowden syndrome | A rare autosomal dominant disorder due to germline mutation of, a tumor suppressor gene characterized by multiple tumor-like growths called hamartomas. | PTEN | |||||
Cushing's syndrome | A disorder due to prolonged exposure to cortisol characterized by hypertension, abdominal obesity but with thin arms and legs, purple abdominal striae, moon facies, buffalo lump, weak muscles, weak bones, acne, and fragile skin that heals poorly. | ||||||
Acromegaly/gigantism | A rare syndrome due to excess growth hormone characterized by enlargement of the hands, feet, nose, lips and ears, and a general thickening of the skin, hypertrichosis, hyperpigmentation and hyperhidrosis and carpal tunnel syndrome. | ||||||
Hyperaldosteronism | A disorder due to excess production of the aldosterone by the adrenal glands characterized by hypertension, muscular weakness, muscle spasms, tingling sensations and excessive urination. | ||||||
Pituitary adenoma | A tumor in pituitary gland characterized by visual field defects, classically bitemporal hemianopsia, increased intracranial pressure, migraine and lateral rectus palsy. | ||||||
Hyperparathyroidism | A disorder due to excess production of parathyroid hormone characterized by kidney stones, hypercalcemia, constipation, peptic ulcers and depression. | ||||||
Thyroid carcinoma | A tumor of the thyroid gland characterized by signs and symptoms of hyperthryroidism or hypothyroidism. | ||||||
Pheochromocytoma/paraganglioma | A neuroendocrine tumor of the medulla of the adrenal glands characterized by episodic hypertension, palpitations, anxiety, diaphoresis and weight loss. | ||||||
Adrenocortical carcinoma | An aggressive cancer originating in the cortex of the adrenal gland that may either by non-secretory (asymptomatic) or secretory with signs and symptoms of Cushing syndrome (cortisol hypersecretion), Conn syndrome (aldosterone hypersecretion), virilization (testosterone hypersecretion) | ||||||
Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013[1] |
References
- ↑ Toledo SP, Lourenço DM, Toledo RA (2013). "A differential diagnosis of inherited endocrine tumors and their tumor counterparts". Clinics (Sao Paulo). 68 (7): 1039–56. doi:10.6061/clinics/2013(07)24. PMC 3715026. PMID 23917672.