multiple endocrine neoplasia type 2b/hnačka

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Chronic diarrhea and facial dysmorphism in children--a clue to men 2B syndrome: a case report.

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Medullary thyroid cancer (MTC) is a highly malignant tumor of the thyroid gland in children, rarely diagnosed and treated by pediatric oncologists. The authors describe a 9-year-old male who presented with facial dysmorphism and history of chronic diarrhea before being diagnosed with advanced MTC.

The Reality of Multiple Endocrine Neoplasia Type 2B Diagnosis: Awareness of Unique Physical Appearance Is Important.

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BACKGROUND Multiple endocrine neoplasia type 2B (MEN2B) is an extremely rare syndrome mainly caused by RET918 germline mutations. MEN2B typically causes medullary thyroid carcinoma (MTC), pheochromocytoma, and unique physical characteristics including mucosal neuroma, distinctive facial appearance,

Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b.

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Although the syndrome of multiple endocrine neoplasia, type 2b, is known to comprise mucosal ganglioneuromatosis, medullary thyroid carcinoma, pheochromocytoma and skeletal anomalies, we wish to document the importance of the alimentary-tract components. In nine patients with this syndrome, we found

Alimentary tract manifestations of multiple endocrine neoplasia, type 2b.

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Alimentary tract manifestations were found in all of 17 patients with multiple endocrine neoplasia, type 2b. The manifestations are important because (1) they were chronic, (2) they were severe and led to abdominal operation in 5 patients, (3) they antedated detection of the endocrine neoplasms in

[Type-2B multiple endocrine neoplasms with diffuse liver metastases as the cause of chronic diarrhea].

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During examination before surgical correction of pes valgus a 20-year-old man reported having 3-5 pasty, foul smelling diarrhoeic motions per day for the past 3 years. He was noted to have rather thick lips and Marfan-like body build. Erythrocyte sedimentation rate was 18/34 mm, serum activity of

Medullary carcinoma of the thyroid in the multiple mucosal neuromas syndrome.

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The clinical features of the multiple mucosal neuromas (MMN) syndrome permit the recognition of these patients and their potential development of the associated medullary thyroid carcinoma (MTC). The distinctive physical appearance caused by the mucosal neuromas, the Marfanoid habitus and,

A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract.

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Multiple endocrine neoplasia type 2 (MEN2) is a rare familial syndrome caused by mutations in the RET protooncogene and it is transmitted as an autosomal dominant trait. The underlying problem for all the MEN syndromes is failure of a tumour suppressor gene. The genetic defect in MEN2 is on

Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report.

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We present a 15-year-old female patient with medullary thyroid carcinoma, marfanoid habitus, and mucosal ganglioneuromatosis. Our case had a RET protooncogene mutation ser836 polymorphism in exon 14 and ser904 polymorphism in exon 15. Our patient is thought to be atypical MEN2B due to the absence of

Vandetanib in children and adolescents with multiple endocrine neoplasia type 2B associated medullary thyroid carcinoma.

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OBJECTIVE Medullary thyroid carcinoma (MTC) is a manifestation of multiple endocrine neoplasia type 2 (MEN2) syndromes caused by germline, activating mutations in the RET (REarranged during Transfection) proto-oncogene. Vandetanib, a VEGF and EGF receptor inhibitor, blocks RET tyrosine kinase

[Clinical manifestations, therapeutic response to tyrosinase inhibitor and RET gene activating mutation in a patient with multiple endocrine neoplasia 2B].

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OBJECTIVE To explore the clinical manifestations, therapeutic response and RET gene mutation in a patient with multiple endocrine neoplasia 2B (MEN2B) characterized by medullary thyroid carcinoma (MTC), bilateral adrenal pheochromocytoma and multiple mucosal neuromas. METHODS The clinical features,

Rare syndromes.

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Dermatologists may also encounter patients presenting with skin lesions that reflect an underlying endocrine disorder not commonly seen in daily practice. Some of these endocrine disorders include glucagonoma, neurofibromatosis type 1, McCune-Albright syndrome, multiple endocrine neoplasia, the

[Diffuse colonic ganglioneuromatous polyposis].

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Ganglioneuromatous polyposis is a very rare intestinal disease which differs from isolated polypoid ganglioneuroma and from diffuse ganglioneuromatosis. Its clinical, endoscopic, microscopic and evolutive features are poorly known. We report three cases of colonic ganglioneuromatous polyposis that

[Vasoactive intestinal polypeptide-secreting diffuse ganglioneuromatosis affecting the small intestine and the colon in an infant: an exceptional inaugural manifestation of NF1].

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Diffuse ganglioneuromatosis of the digestive tract is a rare condition, especially in children. It is frequently associated with multiple endocrine neoplasia type 2b and less commonly with neurofibromatosis type 1 (NF1). We report the case of an 8-month-old baby presenting with vasoactive intestinal

Medullary thyroid carcinoma: clinical characteristics, treatment, prognostic factors, and a comparison of staging systems.

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BACKGROUND The clinical courses of patients with medullary thyroid carcinoma (MTC) vary, and a number of prognostic factors have been studied, but the significance of some of these factors remains controversial. METHODS The study group consisted of 104 patients with MTC or C-cell hyperplasia managed

Isolated Intestinal Ganglioneuroma Mimicking Small Bowel Crohn's Disease.

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Ganglioneuromas (GNs) are hamartomatous tumors derived from the autonomic nervous system. GNs are frequently associated with neurofibromatosis-1 and multiple endocrine neoplasia type 2b and commonly present with constipation, abdominal pain, weight loss, obstruction, and gastrointestinal bleeding.

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