Bauer Adam H, Bonham Jeff, Gutierrez Luis, Hsiao Edward C, Motamedi Daria
Kaiser Fontana Medical Center, Fontana, CA, USA.
Department of Radiology and Biomedical Imaging, University of California, San Francisco, CA, USA.
Skeletal Radiol. 2018 Aug;47(8):1043-1050. doi: 10.1007/s00256-018-2889-5. Epub 2018 Feb 14.
Fibrodysplasia ossificans progressiva is a rare genetic disorder characterized by congenital skeletal deformities and soft tissue masses that progress to heterotopic ossification. Deformities of the great toes are distinctive, and heterotopic ossification in the soft tissues follows an expected anatomic and temporal pattern. In addition to heterotopic ossification, osteochondromata, middle ear ossification, demyelination, lymphedema, and venous thrombosis are characteristic. Awareness of this constellation of findings is important to early diagnosis and surveillance.
Recognition of the imaging manifestations of fibrodysplasia ossificans progressiva is imperative to early diagnosis in order to appropriately direct patient care and preclude unnecessary biopsies or surgical procedures.
进行性骨化性纤维发育不良是一种罕见的遗传性疾病，其特征为先天性骨骼畸形和软组织肿块，并进展为异位骨化。大脚趾畸形具有特异性，软组织中的异位骨化遵循预期的解剖学和时间模式。除异位骨化外，骨软骨瘤、中耳骨化、脱髓鞘、淋巴水肿和静脉血栓形成也是其特征。认识到这一系列表现对于早期诊断和监测很重要。
认识进行性骨化性纤维发育不良的影像学表现对于早期诊断至关重要，以便合理指导患者护理并避免不必要的活检或手术。
