Parekh Selene G, Donthineni-Rao Rakesh, Ricchetti Eric, Lackman Richard D
Department of Orthopaedic Surgery, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
J Am Acad Orthop Surg. 2004 Sep-Oct;12(5):305-13. doi: 10.5435/00124635-200409000-00005.
Fibrous dysplasia is a developmental disorder of bone that can present in a monostotic or polyostotic form. Primarily affecting adolescents and young adults, it accounts for 7% of benign bone tumors. Many of the asymptomatic lesions are found incidentally; the remainder present with symptoms of swelling, deformity, or pain. Fibrous dysplasia has been associated with multiple endocrine and nonendocrine disorders and with McCune-Albright and Mazabraud's syndromes. The etiology remains unclear, but molecular biology suggests a mutation in the G(s)alpha subunit and activation of c-fos and other proto-oncogenes. Fibrous dysplasia has a characteristic radiographic appearance. Most cases do not require intervention, but those that do usually are managed surgically with curettage, bone grafting, and, in some cases, internal fixation. When some intervention is necessary but surgery is not practical, treatment is with bisphosphonates. The prognosis generally is good, although poor outcomes are more frequent in younger patients and in those with polyostotic forms of the disease. The risk of malignant transformation is low.
骨纤维异常增殖症是一种骨发育障碍疾病,可呈单骨型或多骨型。主要影响青少年和年轻成年人,占良性骨肿瘤的7%。许多无症状病变是偶然发现的;其余的则表现为肿胀、畸形或疼痛症状。骨纤维异常增殖症与多种内分泌和非内分泌疾病以及McCune - Albright综合征和Mazabraud综合征有关。病因尚不清楚,但分子生物学研究表明G(s)α亚基发生突变,c - fos和其他原癌基因被激活。骨纤维异常增殖症具有特征性的影像学表现。大多数病例不需要干预,但需要干预的病例通常采用刮除术、骨移植,在某些情况下还采用内固定进行手术治疗。当需要进行一些干预但手术不可行时,治疗方法是使用双膦酸盐。总体预后良好,尽管在年轻患者和患有多骨型疾病的患者中不良结局更为常见。恶性转化的风险较低。