Vanishing bone disease: Decoding the rare entity of Gorham–Stout disease

Sooraj Soman, S. Aslam, T. Thomas, A. Roy, T. Sruthi, Sajeesh Raj
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Abstract

Vanishing bone disease is a rare entity with an obscure cause and undetermined pathophysiology and characterized by spontaneous and progressive resorption of bones. To date, the etiology of Gorham–Stout syndrome is still controversial. However, LYVE-1, a receptor, and podoplanin, a transmembrane glycoprotein identified by the antibody D2-40, are two extensively used molecular markers of lymphatic endothelial cells. These markers do exist in the medullary and cortical portions of Gorham–Stout disease (GSD) patients' bones. The following case report describes a case of 32-year-old male with GSD involving the maxilla with a brief discussion on etiopathogenesis, clinical features, radiological and histological findings, and diagnosis with treatment options.
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消失的骨病:解码罕见的Gorham-Stout病
消失骨病是一种罕见的疾病,病因不明,病理生理不确定,以自发和进行性骨吸收为特征。迄今为止,Gorham-Stout综合征的病因仍有争议。然而,LYVE-1受体和podoplanin(一种由抗体D2-40鉴定的跨膜糖蛋白)是淋巴内皮细胞广泛使用的两种分子标志物。这些标记物确实存在于Gorham-Stout病(GSD)患者骨骼的髓质和皮质部分。以下病例报告描述了一例32岁男性上颌骨GSD,并简要讨论了发病原因、临床特征、放射学和组织学表现、诊断和治疗方案。
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