Ham S J John, de Lange Jan, van der Zwan Arnard L, Schaap Gerard R, van der Woude Henk-Jan, Heeg Minne
Onze Lieve Vrouwe Gasthuis, afd. Orthopedie, Amsterdam, the Netherlands.
Ned Tijdschr Geneeskd. 2012;156(11):A4254.
Multiple osteochondroma, also known as hereditary multiple exostoses, is a relatively rare genetic disorder characterized by the presence of multiple osteochondromas. The disease is frequently painful, with restriction of the activities of daily living, problems with carrying out an occupation and performance at school. In addition, characteristic skeletal deformities and postural abnormalities of the joints very frequently occur in patients with this disorder. Malignant transformation of osteochondroma to chondrosarcoma occurs in 1-5% of the patients with multiple osteochondroma. Treatment of patients with multiple osteochondromas must be tuned to the problems experienced by the patient. Symptomatic osteochondromas are often an indication for excision; knowledge of the natural progression of the abnormality is important in this. Periodical screening is essential: in children to prevent or correct deformity and postural abnormalities and in adults to detect and treat malignant transformation of osteochondroma at an early stage.
多发性骨软骨瘤，也称为遗传性多发性外生骨疣，是一种相对罕见的遗传性疾病，其特征是存在多个骨软骨瘤。该疾病常伴有疼痛，会限制日常生活活动，影响职业发展和学业表现。此外，患有这种疾病的患者经常会出现典型的骨骼畸形和关节姿势异常。在多发性骨软骨瘤患者中，骨软骨瘤恶变为软骨肉瘤的发生率为1%至5%。多发性骨软骨瘤患者的治疗必须根据患者所经历的问题进行调整。有症状的骨软骨瘤通常是切除的指征；了解异常的自然进展情况在此很重要。定期筛查至关重要：对儿童进行筛查以预防或纠正畸形和姿势异常，对成年人进行筛查以早期发现和治疗骨软骨瘤的恶变。
