(MEN 2, multiple endocrine adenomatosis, Type 2, Sipple syndrome)

The multiple endocrine neoplasia type 2A (MEN 2A) is a hereditary disease, which is characterized by medullary thyroid carcinoma, pheochromocytoma, hyperparathyroidism and occasionally cutaneous lichen amyloidosis. The clinical presentation depends on the affected glands. The hereditary medullary thyroid carcinoma is a distinct variant of MEN 2A. The diagnosis also includes a genetic testing. Hormone assays and imaging techniques are used for the localization of tumors. If possible, then surgical removal of the tumors.

Mutations in the RET proto-oncogene on chromosome 10 were detected in MEN 2A, MEN 2B and inherited medullary thyroid carcinoma. The RET protein is a receptor tyrosine kinase; MEN 2A and inherited mutations of medullary thyroid carcinoma lead to activation of specific intracellular signaling pathways.

The multiple endocrine neoplasia type 2A (MEN 2A) is a hereditary disease, which is characterized by medullary thyroid carcinoma, pheochromocytoma, hyperparathyroidism and occasionally cutaneous lichen amyloidosis. The clinical presentation depends on the affected glands. The hereditary medullary thyroid carcinoma is a distinct variant of MEN 2A. The diagnosis also includes a genetic testing. Hormone assays and imaging techniques are used for the localization of tumors. If possible, then surgical removal of the tumors. Mutations in the RET proto-oncogene on chromosome 10 were detected in MEN 2A, MEN 2B and inherited medullary thyroid carcinoma. The RET protein is a receptor tyrosine kinase; MEN 2A and inherited mutations of medullary thyroid carcinoma lead to activation of specific intracellular signaling pathways. Symptoms and complaints The findings are as needed for tumor different (see table: findings associated with MEN syndromes). Thyroid Almost all patients have a medullary thyroid carcinoma (MTC Malignant tumors of the thyroid: Medullary thyroid carcinoma). The tumor already developed during childhood and begins with a thyroid parafollicular C-cell hyperplasia. The tumors are usually multizentrisch.Nebenniere pheochromocytomas occur generally in the adrenal glands. Pheochromocytomas occur in 40-50% of patients within a MEN-2A collective, and in some collectives are pheochromocytomas for 30% of all deaths. In contrast to the sporadic pheochromocytoma (pheochromocytoma) begins the familiar variant in MEN 2A with a hyperplasia of the adrenal gland and is multicentric and bilateral in> 50% of cases. Extraadrenale pheochromocytomas are rare. Pheochromocytomas are almost always benign, but some are prone to local recurrence. In contrast to pheochromocytomas sporadic the pheochromocytomas produce disproportionate amounts of epinephrine in MEN 2A (and 2B) relative to norepinephrine. Hypertensive crisis due to pheochromocytoma are common manifestations. The hypertension in MEN 2 patients with pheochromocytoma is different from sporadic cases, frequent paroxysmal as lasting. but many are asymptomatic. Patients with pheochromocytomas can paroxysmal palpitations, anxiety, headaches or sweating haben.Nebenschilddrüse 10-20% of patients have evidence of hyperparathyroidism (which already can last a long time) with hypercalcemia, nephrolithiasis, nephrocalcinosis or renal failure. A hyperparathyroidism often affects several glands as either diffuse hyperplasia or in the form of multiple adenomas. Even mild abnormalities in the function of the parathyroid glands can in MEN 2A auftreten.Andere manifestations Cutaneous lichen amyloidosis, an itchy, scaly, papular skin lesion in the interscapular region or on the extensor surfaces, occurs with some MEN-2A collectives. A Hirschsprung’s disease occurs at 2-5% of the MEN 2A patients. Cutaneous lichen amyloidosis (CLA) © Springer Science + Business Media var model = {thumbnailUrl: ‘/-/media/manual/professional/images/435-cutaneous-lichen-amyloidosis-springer-high-crop_de.jpg?la=de&thn= 0 & mw = 350 ‘, imageUrl’ /-/media/manual/professional/images/435-cutaneous-lichen-amyloidosis-springer-high-crop_de.jpg?la=de&thn=0 ‘, title:’ Cutaneous Lichen amyloidosis (CLA ) ‘, description:’ u003Ca id = “v37895448 ” class = “”anchor “” u003e u003c / a u003e u003cdiv class = “”para “” u003e u003cp u003eDas upper panel shows interscapular CLA

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