The coexistence of osteogenesis imperfecta and inflammatory arthritis has been very rarely described. Nevertheless, systemic inflammation has been found in osteogenesis imperfecta. The COL1A1 mutations may affect collagen synthesis as well as post-translational modifications, extracellular matrix interactions, and receptor-mediated signaling. Major collagen binding ligands forming the interactome, such as cytokines, cell adhesion molecules, matrix metalloproteinases, proteoglycans, and other molecules, are autoimmunity targets involved in rheumatoid arthritis pathogenesis. Cross-talk between bone remodeling and inflammatory pathways involving osteoclasts is important in osteogenesis imperfecta and rheumatoid arthritis. In osteogenesis imperfecta, the structural abnormalities and repeated traumatism, including fractures, could activate locally the innate immunity and trigger arthritis, similar to post-traumatic arthritis. Currently, the therapy of osteogenesis imperfecta is a suboptimally met need. Understanding the complex putative pathogenic links between osteogenesis imperfecta and inflammatory arthritis could hopefully lead to new therapeutic targets. Raising awareness regarding a possible association between osteogenesis imperfecta and arthritis could help improve the quality of life in these patients.

很少描述成骨不全症和炎性关节炎的共存。然而，在成骨不全症中发现了全身炎症。COL1A1 _突变可能影响胶原合成以及翻译后修饰、细胞外基质相互作用和受体介导的信号传导。形成相互作用组的主要胶原结合配体，如细胞因子、细胞粘附分子、基质金属蛋白酶、蛋白聚糖和其他分子，是类风湿性关节炎发病机制中涉及的自身免疫靶点。骨重塑和涉及破骨细胞的炎症通路之间的交叉对话在成骨不全症和类风湿性关节炎中很重要。在成骨不全症中，结构异常和反复创伤，包括骨折，可局部激活先天免疫并引发关节炎，类似于创伤后关节炎。目前，成骨不全症的治疗并未得到最佳满足。了解成骨不全症和炎性关节炎之间复杂的假定致病联系有望带来新的治疗靶点。提高对成骨不全症和关节炎之间可能关联的认识有助于改善这些患者的生活质量。