Physical and Rehabilitation Medicine 2, Rizzoli Orthopedic Institute, Bologna.
Local Health Unit Roma 4, Civitavecchia, Rome.
Reumatismo. 2024 Mar 22;76(1). doi: 10.4081/reumatismo.2024.1621.
Melorheostosis is a rare, non-hereditary, benign bone disease characterized by abnormal bone growth. Generally, melorheostosis develops during childhood or adolescence and progresses gradually over time. This disease represents a true challenge to the physician because of its variability due to location, extension of the affected bone, and involvement of associated soft tissue. Pain management, physical therapy, and surgery may be recommended, depending on the individual case. This review aims to get an overview of the latest evidence relating to epidemiology, clinical and radiographic characteristics, diagnosis, and possible therapeutic strategies for melorheostosis and describe our experience through a clinical case.
We designed a comprehensive literature search on melorheostosis in MEDLINE (via Pubmed) up to April 2023 and reviewed reports published in international journals.
The purpose is to highlight the importance of a multidisciplinary approach in the management of a rare disease such as melorheostosis. We discuss the role of different physicians, including genetists, rheumatologists, physiatrists, physical therapists, and orthopedic surgeons, in providing accurate diagnoses and effective treatments. We conducted a comprehensive review of the literature on the treatment of melorheostosis to support these findings. In addition, the article presents a case study of a patient suffering from melorheostosis, focusing on difficulties in reaching a correct diagnosis and attempts towards conservative and surgical interventions. The patient underwent hip arthroplasty, and the final result was an improvement in function and a reduction in pain.
Managing melorheostosis can be challenging, and there is no standardized treatment for this condition at the moment.
大理石骨病是一种罕见的、非遗传性良性骨疾病，其特征为骨骼异常生长。一般来说，大理石骨病在儿童或青少年时期发展，并随着时间的推移逐渐进展。由于其位置、受累骨的延伸和相关软组织的受累的多样性，该病对医生来说是一个真正的挑战。根据个体情况，可能会推荐疼痛管理、物理疗法和手术。本综述旨在概述与大理石骨病相关的最新流行病学、临床和影像学特征、诊断和可能的治疗策略的证据，并通过一个临床病例描述我们的经验。
我们在 MEDLINE（通过 Pubmed）上设计了一项关于大理石骨病的全面文献检索，检索截至 2023 年 4 月，并回顾了国际期刊上发表的报告。
目的是强调在管理大理石骨病等罕见疾病时采用多学科方法的重要性。我们讨论了包括遗传学家、风湿病学家、物理治疗师、物理治疗师和骨科医生在内的不同医生在提供准确诊断和有效治疗方面的作用。我们对大理石骨病的治疗进行了全面的文献回顾，以支持这些发现。此外，本文还介绍了一例大理石骨病患者的病例研究，重点介绍了在得出正确诊断方面的困难以及对保守和手术干预的尝试。该患者接受了髋关节置换术，最终结果是功能改善和疼痛减轻。
大理石骨病的治疗可能具有挑战性，目前这种情况下还没有标准化的治疗方法。
