Bridges A J, Hsu K C, Singh A, Churchill R, Miles J
Department of Internal Medicine, University of Missouri Hospital and Clinics, Columbia.
Semin Arthritis Rheum. 1994 Dec;24(3):155-64. doi: 10.1016/0049-0172(94)90071-x.
Fibrodysplasia ossificans progressiva (FOP) is a rare hereditary connective tissue disorder. Patients with FOP develop progressive ossification of muscle and connective tissue associated with pain and disability. Onset is typically in childhood, and congenital anomalies of the feet are an early sign of this condition. Pain and stiffness of the spine or an inflammatory mass are common presenting features of FOP. Involvement of the spine often leads to complete fusion mimicking ankylosing spondylitis. Studies of twins and families suggest that FOP is a genetically inherited autosomal dominant trait with complete penetrance but variable expressivity. While radionuclide imaging and computed tomography are very sensitive for new bone formation and greatly assist the diagnosis of FOP, unfortunately, effective therapy is unavailable. We present twins with FOP and review the clinical, radiographic, and genetic manifestations of this disorder.
进行性骨化性纤维发育不良（FOP）是一种罕见的遗传性结缔组织疾病。FOP患者会出现与疼痛和残疾相关的肌肉和结缔组织进行性骨化。发病通常在儿童期，足部先天性异常是这种疾病的早期迹象。脊柱疼痛和僵硬或炎性肿块是FOP常见的临床表现。脊柱受累常导致完全融合，类似强直性脊柱炎。对双胞胎和家族的研究表明，FOP是一种具有完全外显率但表达可变的常染色体显性遗传性状。虽然放射性核素成像和计算机断层扫描对新骨形成非常敏感，极大地有助于FOP的诊断，但不幸的是，目前尚无有效的治疗方法。我们报告了一对患有FOP的双胞胎，并回顾了这种疾病的临床、影像学和遗传学表现。
