Objective: To review the research progress of pathogenesis mechanism of spinal deformity in neurofibromatosis type 1 (NF1).
Methods: Recent literature concerning the pathogenesis mechanism of spinal deformity in NF1 was extensively reviewed, and current developments of the correction of spinal deformity and NF1 and the pathogenesis mechanism were summarized.
Results: The pathogenesis mechanism of spinal deformity in NF1 is not yet clearly known. Current theories include erosion and stress of neurofibromas, melatonin-related decreased contractility of paraspinal muscles, osteopenia and osteoporosis, sexual precocity and mesoderm dysplasia.
Conclusions: The clinical manifestations of NF1 may cause the spinal deformities in patients with NF1. The research of pathogenesis mechanism of spinal deformity in NF1 will be conducive to further understanding, diagnosis and treatment of NF1-related spinal deformity.
目的: 综述1型神经纤维瘤病（neurofibromatosis type 1,NF1）相关的脊柱畸形致病机制研究进展。.
方法: 广泛查阅近年国内外有关NF1相关脊柱畸形致病机制的文献，对其与脊柱畸形的相互联系、相关致病机制及研究进展进行综述。.
结果: 目前对于NF1患者发生脊柱畸形的致病机制尚未明确，可能与神经纤维瘤直接侵蚀与压迫、椎管内硬脊膜扩张、褪黑素导致的脊柱旁肌肉收缩力下降、骨量减少与骨质疏松、性早熟以及中胚层发育不良有关。.
结论: NF1患者的众多临床表现可能是导致其脊柱畸形发生的诱因，NF1相关脊柱畸形致病机制的研究将有助于对NF1脊柱畸形的认识、诊断和治疗。.
Keywords: Neurofibromatosis type 1; Pathogenesis mechanism; Spinal deformity.