Multiple endocrine adenomatosis type IIB. Report of two cases and review of the literature.
The combination of bilateral medullary thyroid cancer, bilateral pheochromocytoma, Marfanoid body habitus with arachnodactyly, pectus excavatum, mucosal neuromas, and hyperplastic corneal nerves has become recognized as a definite entity, multiple endocrine adenomatosis (MEA) Type IIB. Two cases of MEA Type IIB are described, along with diagnosis, treatment, pitfalls in management, and related syndromes. When this syndrome is suspected, a careful search for other hyperfunctioning endocrine glands, particularly pheochromocytoma, must be made. Failure to recognize pheochromocytoma may prove a serious hazard if thyroidectomy is the initial procedure. The value of thyrocalcitonin as an indicator of the presence of medullary thyroid cancer and its value as a familial screening test are discussed.
D000293:Adolescent; D000328:Adult; D002116:Calcitonin / Q000097:blood; D002277:Carcinoma / Q000235:genetics; D006801:Humans; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000150:complications / Q000175:diagnosis / Q000601:surgery*; D010641:Phenotype; D010673:Pheochromocytoma / Q000150:complications; D013965:Thyroidectomy
D002116:Calcitonin