Mesh : Female Humans Adult Exostoses, Multiple Hereditary / diagnosis Quality of Life Orthopedics Pain

来  源:   DOI:10.1097/NOR.0000000000001018   PDF(Pubmed)

Abstract:
Hereditary multiple exostosis (HME) is a rare genetic disorder characterized by multiple bony spurs or lumps, commonly affecting the long bones. This case report exposes the clinical presentation, diagnosis, and management of HME in a 28-year-old female nurse, who initially presented with persistent bilateral knee pain. After extensive evaluation involving orthopaedic and oncology specialists, the diagnosis of HME was made. Despite the discovery of multiple exostoses, the patient reported improvement following a tailored physiotherapy regimen. This case study underscores the complexity and broad spectrum of symptoms associated with HME. It emphasizes the importance of a multidisciplinary approach in diagnosing and managing such conditions, which can lead to better patient outcomes and an improved quality of life. By shedding light on the role of physiotherapy in managing rare genetic disorders such as HME, this case report contributes to the growing body of literature exploring noninvasive treatment options for these diseases.
摘要:
遗传性多发性骨外生症(HME)是一种罕见的遗传性疾病,以多发性骨刺或肿块为特征,通常影响长骨。这份病例报告揭露了临床表现,诊断,以及一名28岁女护士的HME管理,最初表现为持续性双侧膝盖疼痛。经过骨科和肿瘤学专家的广泛评估,诊断为HME。尽管发现了多个外生体,患者报告在定制的物理治疗方案后有所改善.该案例研究强调了与HME相关的症状的复杂性和广谱。它强调了多学科方法在诊断和管理此类疾病方面的重要性,这可以导致更好的患者预后和提高生活质量。通过阐明物理治疗在管理HME等罕见遗传疾病中的作用,本病例报告有助于越来越多的文献探索这些疾病的非侵入性治疗方案.
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