Department of Orthopaedic Surgery, NYU Hospital for Joint Disease, New York, NY, USA.
J Am Acad Orthop Surg. 2010 Jun;18(6):346-57. doi: 10.5435/00124635-201006000-00007.
Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease that affects 1 in 3,000 persons worldwide. Café-au-lait macules and peripheral nerve sheath tumors (ie, neurofibromas) are the most commonly recognized manifestations of NF-1. However, NF-1 affects multiple organ systems, and a multidisciplinary approach to treatment is required. Management of the orthopaedic manifestations of NF-1 is often difficult. The most complex manifestations are scoliosis (dystrophic and nondystrophic), congenital pseudarthrosis of the tibia, and problems related to soft-tissue tumors. Metabolic bone disease is common; many patients are frankly osteopenic, which further complicates treatment. Dystrophic scoliosis, which may be caused by either bony dysplasia or intraspinal pathology, is characterized by early presentation and rapid progression. Pseudarthrosis is common even after instrumented fusion. Nondystrophic scoliosis tends to behave like adolescent idiopathic scoliosis, although it may present earlier and is associated with a higher rate of pseudarthrosis. Congenital pseudarthrosis of the tibia is a long-bone dysplasia that afflicts patients with NF-1. Management of this osseous deformity is challenging. Failure to achieve union and refracture are common.
神经纤维瘤病 1 型（NF-1）是一种常染色体显性疾病，全球每 3000 人中就有 1 人受到影响。咖啡牛奶斑和周围神经鞘肿瘤（即神经纤维瘤）是 NF-1 最常见的表现。然而，NF-1 影响多个器官系统，需要多学科方法进行治疗。NF-1 骨科表现的管理通常很困难。最复杂的表现是脊柱侧凸（营养不良型和非营养不良型）、先天性胫骨假关节和与软组织肿瘤相关的问题。代谢性骨病很常见；许多患者明显骨质疏松，这进一步使治疗复杂化。由骨发育不良或椎管内病变引起的营养不良性脊柱侧凸的特点是早期出现和快速进展。即使经过器械融合，假关节也很常见。非营养不良性脊柱侧凸的行为类似于青少年特发性脊柱侧凸，尽管它可能更早出现，并与更高的假关节发生率相关。先天性胫骨假关节是一种影响 NF-1 患者的长骨发育不良。这种骨畸形的治疗具有挑战性。未达到愈合和再骨折很常见。
