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一名9岁女性患2B型多发性内分泌腺瘤病(MEN2B)。

Multiple Endocrine Neoplasia Type 2b (MEN2B) in a 9-Year-Old Female.

作者信息

Kao Solon T, Capua Christopher J, Abdelsayed Rafik A

机构信息

Assistant Professor, Department of Oral and Maxillofacial Surgery, Dental College of Georgia, Augusta University, Augusta, GA.

Chief Resident, Department of Oral and Maxillofacial Surgery, Dental College of Georgia, Augusta University, Augusta, GA.

出版信息

J Oral Maxillofac Surg. 2018 Sep;76(9):1925-1928. doi: 10.1016/j.joms.2018.03.042. Epub 2018 Apr 7.

DOI:10.1016/j.joms.2018.03.042
PMID:29709408
Abstract

Multiple endocrine neoplasia (MEN) is an uncommon genetic syndrome transmitted as an autosomal dominant condition characterized by multiple tumors or hyperplasia of neuroendocrine tissues. MEN type 2b (MEN2B) often has clinical signs of marfanoid facial appearance and mucosal neuromas of the head. This report describes the diagnosis of MEN2B in a previously undiagnosed 9 year old who presented for biopsy of an oral lesion.

摘要

多发性内分泌腺瘤病(MEN)是一种罕见的遗传性综合征,以常染色体显性方式遗传,其特征为神经内分泌组织出现多个肿瘤或增生。2B型多发性内分泌腺瘤病(MEN2B)通常具有马方综合征样面容和头部黏膜神经瘤的临床体征。本报告描述了一名9岁此前未被诊断的MEN2B患者的诊断情况,该患者因口腔病变活检前来就诊。

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Endocrine. 2021 Jun;72(3):905-914. doi: 10.1007/s12020-021-02607-2. Epub 2021 Jan 21.