骨纤维结构不良

昨天病房新收一15岁小男孩，右侧肱骨中上等骨纤维结构不良。曾手术治疗，见中间骨密度增高影，现沿该增高影向上下出现骨纤维结构不良！皮质变薄，稍畸形！拟明日手术，行病灶清除，异体松质骨植骨术！特摘文献于此：

Natural history and treatment of fibrous dysplasia of bone:a multicenter clinicopathologic study promoted by the European Pediatric Orthopaedic Society

A multicenter study on fibrous dysplasia of bone (FD) waspromoted by the European Pediatric Orthopaedic Society in 1999 in order to gain insight into the natural history of the disease and to evaluate current diagnostic and therapeutic approaches. We collected and reviewed clinical, radiographic, pathological, and molecular genetic data when possible, from a total of 64 cases diagnosed as either monostotic FD (MFD), polyostotic FD (PFD), or McCune–Albright syndrome (MAS), evaluated or treated in 11 participating centers. Results from the initial analysis of the series indicate five main points: (1) Significant diagnostic pitfalls affect the diagnosis of MFD and, to a lesser extent, PFD in orthopedic centers and allied radiology and pathology facilities, which may be circumvented by the adoption of stringent diagnostic criteria, and in some cases by the analysis of FD-associated GNAS1 mutations. (2) MFD carries a significant risk for fracture in the face of limited disease in the proximal femur, whereas its tendency to progress is restricted to a minority of cases, and longterm outcome is usually satisfactory, regardless of treatment, in non-progressive cases. (3) The profile of tibial disease, both in MFD and in PFD, is markedly different from that of femoral disease. (4) As expected, MAS patients have the most extensive disease and the most complicated course, regularly experience multiple fractures, and require adequate surgical treatment. It appears that conservative treatment of femoral fracture, or curettage and cancellous bone grafting, or fixation with screws and plates are not indicated for the treatment of femoral fractures in these patients and should all be discouraged. Internal fixation with intramedullary nails provides stabilization of extensively affected bones, and prevents further fractures and major deformities, and thus providing a better option both for acute and elective surgery in patients with extensive involvement of the femur or of other limb long bones. (5) Evaluation of patients with FD at orthopedic centers should include, but rarely does, a thorough evaluation of endocrine profile and phosphate metabolism, and proper pathological and radiographic assessment. J Pediatr Orthop B 12:155–177

骨纤维结构不良的自然史与治疗：欧洲小儿骨科学会促成的多中心临床病理研究

欧洲小儿骨科学会于1999年促成的一项关于骨纤维结构不良的多中心研究旨在深入了解该病的自然史以及评估目前的诊断和治疗方法。我们尽可能收集并回顾了来自参与该研究的11个中心64 例被诊断为单发性、多发性、以及McCune–Albright综合征（MAS[包括皮肤色素沉着、内分泌失常及骨病表现，译者注]）的临床、放射学、病理学和分子遗传学的资料。对其初步的分析结果主要提示以下五点：1）明显的诊断方面的不足影响到多个骨科中心以及相应的放射和病理机构对单发性和多发性（影响小一些）骨纤维结构不良的诊断。可能急需有个统一的诊断标准并且要对某些病例进行纤维结构不良相关性GNAS1突变分析。2）虽然单发性纤维结构不良很少会有病情进展，而且对于无进展的病例，无论是否治疗其长期结果都是令人满意的，但该病仍有很大风险会发生面部骨折且少数病例会发生股骨近端骨折。3）无论单发性或多发性，其发生于胫骨与发生在股骨的表现明显不同。4）如预期一样，MAS的病人病变范围最广、病程最复杂、常发生多处骨折并需要进行足够的外科治疗。对于这些病人所发生的股骨骨折进行保守治疗或刮除并松质骨植骨或钢板螺钉固定都是不适宜的，对于这些治疗方式都应该予以劝止。髓内钉为大范围受累的骨提供了稳定并能预防进一步骨折和大块缺损。故而髓内钉用于股骨或其它四肢长骨大范围受累的病人进行急诊或择期手术都是个较好的选择。5）在骨科中心评估纤维结构不良的病人应该包括（却很少做到）对整个内分泌方面、磷代谢情况，以及适宜的病理和放射学评估。 小儿骨科杂志（英国版）12卷：155-177