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Query: UMLS:C0016382 (flushing)
 6,387 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Multiple endocrine neoplasia (MEN) type II is a genetically inherited disorder characterized by a combination of medullary carcinoma of the thyroid, phaeochromocytomas and, more rarely, hyperparathyroidism. A subgroup of patients who do not have the same genetic inheritance pattern have in addition a Marfanoid habitus and multiple mucosal neuromas. The phaeochromocytomas cause paroxysmal hypertensive crises due to catecholamine surges, and are diagnosed most easily by elevated levels of urinary vanillylmandelic acid. Medullary carcinoma presents as a thyroid nodule and is often associated with flushing or diarrhoea. Measurement of plasma thyrocalcitonin levels permits diagnosis and detection of affected members of the family. It is unusual for hyperparathyroidism to be asymptomatic or to require treatment. Bilateral adrenalectomy should always be performed since both adrenals are involved, even if an overt tumour is only apparent in one. Total thyroidectomy for medullary carcinoma is indicated once the phaeochromocytomas have been removed. Affected families should be regularly screened to detect overt cases.
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PMID:Multiple endocrine neoplasia: Part II. Sipple's syndrome. 55 Mar 88

A 42-year old woman presented with headache, palpitation and facial flushing. Ultrasonograms and computed tomograms revealed tumors in both of the adrenal glands, anterior aspect of the inferior vena cava, and the right lobe of the thyroid gland. Fine needle aspiration biopsy of the thyroid nodule revealed papillary thyroid carcinoma. Serum calcitonin, CEA, intact PTH and calcium levels were within normal limits. Markedly elevated levels of urinary normetanephrine and vanillylmandelic acid, and the result of 131I-metaiodobenzylguanidine (131I-MIBG) scintigraphy indicated that both adrenal masses were pheochromocytoma. Bilateral adrenalectomy, paracaval mass removal and total thyroidectomy together with central lymph node dissection were performed. The final pathological diagnosis was bilateral adrenal pheochromocytoma, paraganglioma, papillary thyroid carcinoma and either parathyroid adenoma or hyperplasia. Analysis of the RET proto-oncogene mutation, von Hippel Lindau mutation, succinate dehydrogenase subunit B mutation, and succinate dehydrogenase subunit D mutation yielded negative results. The relationship of these lesions could not be determined. This is the first report of a combination of bilateral pheochromocytoma, abdominal paraganglioma, papillary thyroid carcinoma and either parathyroid adenoma or hyperplasia without hyperparathyroidism.
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PMID:Bilateral pheochromocytoma associated with paraganglioma and papillary thyroid carcinoma: report of an unusual case. 1726 67