PDF(Pubmed)
Abstract：
Fibrous dysplasia is an uncommon genetic disorder in which bone is replaced by immature bone and fibrous tissue, manifesting as slowgrowing lesions. Sporadic post-zygotic activating mutations in GNAS gene result in dysregulated GαS-protein signaling and elevation of cyclic adenosine monophosphate in affected tissues. This condition has a broad clinical spectrum, ranging from insignificant solitary lesions to severe disease. The craniofacial area is the most common site of fibrous dysplasia, and nine out of 10 patients with fibrous dysplasia affecting the craniofacial bones present before the age of 5. Surgery is the mainstay of treatment, but the technique varies according to the location and severity of the lesion and associated symptoms. The timing and indications of surgery should be carefully chosen with multidisciplinary consultations and a patient-specific approach.
摘要：
纤维发育不良是一种罕见的遗传性疾病，其中骨骼被未成熟的骨骼和纤维组织所取代。表现为生长缓慢的病变。GNAS基因中的杂散合子后激活突变导致受影响组织中GαS蛋白信号传导失调和环磷酸腺苷升高。这种情况具有广泛的临床范围，从微不足道的孤立性病变到严重的疾病。颅面区域是纤维发育不良最常见的部位，10名纤维发育不良患者中有9名在5岁之前出现在颅面骨。手术是治疗的主要手段,但是该技术根据病变的位置和严重程度以及相关症状而有所不同。应通过多学科咨询和针对患者的方法仔细选择手术的时机和适应症。
