Nikolaou Vasileios S, Chytas Dimitrios, Korres Demitrios, Efstathopoulos Nicolas
Vasileios S Nikolaou, Dimitrios Chytas, Nicolas Efstathopoulos, 2 Orthopaedic Department, School of Medicine, Athens University, 15124 Athens, Greece.
World J Orthop. 2014 Nov 18;5(5):694-8. doi: 10.5312/wjo.v5.i5.694.
Vanishing bone disease (Gorham-Stout syndrome) is a rare entity of unknown etiology, characterized by destruction of osseous matrix and proliferation of vascular structures, resulting in destruction and absorption of bone. Despite the extensive investigation of the pathogenetic mechanisms of the disease, its etiology hasn't been clarified and several theories exist. The syndrome can affect one or multiple bones of the patient, including the skull, the upper and lower extremities, the spine and pelvis. The clinical presentation of a patient suffering from vanishing bone disease includes, pain, functional impairment and swelling of the affected region, although asymptomatic cases have been reported, as well as cases in which the diagnosis was made after a pathologic fracture. In this short review we summarize the theories regarding the etiology as well as the clinical presentation, the diagnostic approach and treatment options of this rare disease.
骨质消失症(戈勒姆-斯托特综合征)是一种病因不明的罕见病症,其特征是骨基质破坏和血管结构增生,导致骨质破坏和吸收。尽管对该疾病的发病机制进行了广泛研究,但其病因仍未明确,存在多种理论。该综合征可影响患者的一块或多块骨骼,包括颅骨、上下肢、脊柱和骨盆。患有骨质消失症的患者的临床表现包括疼痛、功能障碍和受累区域肿胀,不过也有无症状病例的报道,以及在病理性骨折后才做出诊断的病例。在这篇简短的综述中,我们总结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。