PDF(Pubmed)
Abstract：
Multiple hereditary exostosis syndrome is a rare diagnosis with approximately 1:50000 incidence prevailing in males. The exostoses or osteochondromas are benign but have the potential for malignant transformation in 1-5%. There is a strong genetic component, with exostosis (EXT) signaling pathways being an underlying cause. They can be symptomatic, with pain and functional deficit as the main complaints. We present a case of a 17-year-old male who presented with pain and anatomical deformity in his left lower femur. Magnetic resonance imaging revealed multiple osteochondromas compressing the popliteal neurovascular bundle. Excision of the osteochondromas was performed to decompress the neurovascular bundle in a multidisciplinary approach. Histological examination demonstrated no evidence of malignancy. Currently, there is no consensus for patients diagnosed with multiple osteochondromas regarding further investigation and/or screening for malignant transformation.
摘要：
多发性遗传性外生体综合征是一种罕见的诊断，男性发病率约为1：50000。外生骨或骨软骨瘤是良性的，但有1-5％的恶性转化潜力。有很强的遗传成分，外生症（EXT）信号通路是一个根本原因。它们可能是有症状的，以疼痛和功能缺陷为主要主诉。我们介绍了一例17岁的男性，他的左股骨下部出现疼痛和解剖畸形。磁共振成像显示多个骨软骨瘤压迫the神经血管束。以多学科方法对骨软骨瘤进行切除术以减压神经血管束。组织学检查未显示恶性肿瘤。目前,对于诊断为多发性骨软骨瘤的患者,在进一步检查和/或筛查恶性转化方面尚无共识.
