麦费基氏综合征是一种极为罕见的疾病，可能在儿童早期就出现症状。全球报道的病例数量估计不足300例，然而这个数字可能是低估的。麦费基氏综合征的特征是多发性软骨瘤和软组织血管瘤，可能导致生长和发育异常。除了骨骼畸形、病理性骨折和运动能力丧失外，麦费基氏综合征患者可能发展为中央软骨肉瘤并且患非骨骼恶性肿瘤的风险更高，如胶质母细胞瘤和间皮卵巢肿瘤。本研究通过使用影像学、体格检查、临床表现和治疗策略为临床医生提供了关于这种疾病的信息。有必要总结全球现有的麦费基氏综合征病例，并建立一个有效的诊断、治疗和预防麦费基氏综合征的框架，以更好地认识这种疾病。本研究报告了一名15岁男性麦费基氏综合征患者。由于缺乏有效治疗而导致恶性肿瘤发展的风险，对于麦费基氏综合征患者，通过监测肿瘤标志物和影像学研究进行定期和仔细观察非常重要。由于此病病例罕见且病例数据有限，很难制定明确的治疗计划。迫切需要建立一个麦费基氏综合征患者病例数据库，并探索其发病机制，以便及早诊断、治疗和预防疾病。 版权声明：© Wang等人。

Maffucci syndrome is an extremely rare disease which can manifest symptoms as early as childhood. It is estimated that there have been <300 cases reported globally; however, this number is likely to be an underestimate. Maffucci syndrome is characterized by multiple enchondromas and soft tissue hemangiomas, which can cause growth and developmental malformations. In addition to bone deformities, pathological fractures and a loss of mobility, patients with Maffucci syndrome may develop secondary central chondrosarcoma and have a higher risk of developing non-skeletal malignant tumors, such as gliomas and mesenchymal ovarian tumors. The present study provides information for clinicians about this disease through the use of imaging, physical examinations, clinical manifestations and the treatment strategy used. There is need to summarize the existing cases of this disease around the world and produce an effective framework for the diagnosis, treatment and prevention of Maffucci syndrome, in order to better understand this disease. The present study reports on a 15-year-old male diagnosed with Maffucci syndrome. . Due to the risk of malignant tumor development in the absence of effective treatment, regular and careful observation through monitoring of tumor markers and imaging studies is important for patients with Maffucci syndrome. As cases of this disease are rare and case data is limited, it is difficult to create a clear treatment plan. There is an urgent need to establish a case database of Maffucci syndrome patients and explore its pathogenesis for early diagnosis, treatment and prevention of disease.Copyright: © Wang et al.