Mucosal neuroma, pheochromocytoma and medullary thyroid carcinoma: multiple endocrine neoplasia type 3
1. Three members of a kindred and a fourth unrelated individual demonstrating the syndrome of mucosal neuroma, bumpy lips, marfanoid habitus, medullary thyroid carcinoma and pheochromocytoma are reported, and the literature pertaining to this syndrome has been reviewed. 2. There are currently 41 definite and 16 additional probable reported cases manifesting the syndrome of mucosal neuroma, bumpy lips, pheochromocytoma and medullary thyroid carcinoma. Mucosal neuroma was present in all patients. Medullary thyroid carcinoma was histologically proved in 38 cases. Pheochromocytoma was documented in 19 patients with a probable diagnois in another 4 patients. Only one patient was noted to have hypercalcemia associated with parathyroid adenoma. Associated abnormalities seen in this syndrome include hypertrophied corneal nerves, skeletal defects and gastrointestinal tract abnormalities. 3. The relationship of this syndrome to other types of multiple endocrine neoplasia syndromes and the phakomatoses is also discussed. This syndrome appears to be distinct from the entity of multiple endocrine neoplasia type 2. We suggest that this syndrome be called multiple endocrine neoplasia type 3, following the classification originally proposed by...Continue Reading
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Autoimmune Polyendocrine Syndromes
This feed focuses on a rare genetic condition called Autoimmune Polyendocrine Syndromes, which are characterized by autoantibodies against multiple endocrine organs. This can lead to Type I Diabetes.