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肩胛骨和肋骨骨化性纤维瘤病的成功治疗:病例报告及文献综述

Successful Management of Gorham-Stout Disease in Scapula and Ribs: A Case Report and Literature Review.

作者信息

Li Ming-Hui, Zhang Hao-Qiang, Lu Ya-Jie, Gao Peng, Huang Hai, Hu Yong-Cheng, Wang Zhen

机构信息

Department of Orthopaedics, Xijing Hospital, Fourth Military Medical University, Xi'an, China.

Department of Joint Surgery, General Hospital of Lanzhou Military Region, Lanzhou, China.

出版信息

Orthop Surg. 2018 Aug;10(3):276-280. doi: 10.1111/os.12390. Epub 2018 Aug 12.

Abstract

Gorham-Stout disease (GSD) is an extremely rare bone condition of unknown etiology characterized by spontaneous and progressive resorption of bones. GSD can occur at any age and is not related to gender, genetic inheritance, or race. Any part of the skeleton can be affected and the symptoms correlate with the sites involved. The diagnosis of GSD is established based on the combination of clinical, radiologic, and histologic features after excluding other diseases. Because of its rarity, current knowledge is limited to case reports and there is no agreement on the best strategy for treatment. The following case report describes a successfully treated case of GSD in a 26-year-old male patient with the left scapula and the 7th-9th left ribs involved. The patient was diagnosed with osteoporosis-related pleural effusion at a local hospital. In our institution, the patient was diagnosed with GSD and treated with radiotherapy and bisphosphonate. The disease was controlled and there was no evidence of disease progression during follow-up. Genetic sequencing was performed to investigate the etiology of GSD. In addition, the present study reviews the theories regarding the etiology, the clinical manifestations, the diagnostic approaches, and treatment options for this rare disease.

摘要

戈勒姆-斯托特病(GSD)是一种病因不明的极为罕见的骨病,其特征为骨骼的自发性进行性吸收。GSD可发生于任何年龄,与性别、遗传或种族无关。骨骼的任何部位都可能受累,症状与受累部位相关。GSD的诊断是在排除其他疾病后,根据临床、放射学和组织学特征综合确定的。由于其罕见性,目前的知识仅限于病例报告,对于最佳治疗策略尚无共识。以下病例报告描述了一名26岁男性GSD患者的成功治疗案例,该患者左侧肩胛骨及左侧第7至9肋骨受累。该患者在当地医院被诊断为骨质疏松相关胸腔积液。在我们机构,该患者被诊断为GSD,并接受了放疗和双膦酸盐治疗。疾病得到控制,随访期间无疾病进展迹象。进行了基因测序以研究GSD的病因。此外,本研究回顾了关于这种罕见疾病的病因、临床表现、诊断方法和治疗选择的理论。

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本文引用的文献

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PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.PTEN 错构瘤综合征和 Gorham-Stout 现象。
Am J Med Genet A. 2012 Jul;158A(7):1719-23. doi: 10.1002/ajmg.a.35406. Epub 2012 May 24.
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Gorham's disease or massive osteolysis.戈谢病或大块骨质溶解症。
Clin Med Res. 2005 May;3(2):65-74. doi: 10.3121/cmr.3.2.65.

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