Pediatric Multiple Endocrine Neoplasia Type 2B: Clinicopathological Correlation of Perilimbal Mucosal Neuromas and Treatment of Secondary Open-Angle Glaucoma

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[Multiple mucosal neuromas in the larynx as part of a multiple endocrine neoplasia type 2B].

We present the case of a 28-year-old female diagnosed with multiple endocrine neoplasia type 2B (MEN 2B) when she was 17, consisting of medullary thyroid cancer, bilateral pheochromocytoma, lingual neuromas and marfanoid appearance. Bilateral adrenalectomy was performed as a first step, with complete thyroidectomy and bilateral ganglion dissection and resection of lingual neuromas later on. The...

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Multiple Endocrine Neoplasia Type 2B: Early Diagnosis by Multiple Mucosal Neuroma and Its DNA Analysis.

Multiple endocrine neoplasia type 2B (MEN 2B) is a rare disease caused by germline mutations in the RET proto-oncogene and is transmitted in an autosomal dominant fashion. It is characterized by medullary thyroid carcinoma, pheochromocytoma and mucosal neuroma developing in the tongue, lip, intestinal tract, palate etc. Among these neoplasias, mucosal neuroma generally develops from early child...

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Multiple endocrine neoplasia type 2B in a Chinese patient.

Multiple endocrine neoplasia type 2B syndrome is rarely reported in Chinese patients. A 25-year-old Chinese male presented with full-blown clinical features of this syndrome, including bilateral phaeochromocytomas, medullary thyroid carcinoma, and characteristic phenotypic features. One-stage surgical treatment was performed and subsequent genetic analysis confirmed a point mutation at codon 91...

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Late diagnosis of type 2B multiple endocrine neoplasia (MEN 2B) in a 23 year-old patient.

We present a case of MEN 2B diagnosed in a 23 year-old patient on the basis of bilateral pheochromocytoma and medullary thyroid carcinoma. This young male patient also had multiple paragangliomas located along the spine, marfanoid features of body habitus and numerous mucosal neuromas of the oral cavity and intestinal ganglioneuromatosis. The patient was hospitalised several times between the a...

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ژورنال

عنوان ژورنال: Ocular Oncology and Pathology

سال: 2017

ISSN: 2296-4681,2296-4657

DOI: 10.1159/000484053