Research progress in the pathogenesis and treatment of craniofacial fibrous dysplasia
10.3760/cma.j.cn112144-20250515-00183
- VernacularTitle:颅面部骨纤维异常增殖症的发病机制及治疗研究进展
- Author:
Shuai WANG
1
;
Kehan LI
1
;
Zhixu LIU
1
;
Xudong WANG
1
Author Information
1. 上海交通大学医学院附属第九人民医院口腔颅颌面科 上海交通大学口腔医学院 国家口腔医学中心 国家口腔疾病临床医学研究中心 上海市口腔医学重点实验室 上海市口腔医学研究所，上海 200011
- Publication Type:Journal Article
- Keywords:
Rare diseases;
Fibrous dysplasia of bone;
GNAS gene;
Signaling pathway;
Targeted therapy;
Gene editing
- From:
Chinese Journal of Stomatology
2025;60(10):1195-1202
- CountryChina
- Language:Chinese
-
Abstract:
Craniofacial fibrous dysplasia (CFD) is a rare skeletal disorder characterized by the abnormal replacement of normal bone tissue with fibrous tissue. This article provides a systematic review of the latest advancements in the genetic basis, molecular mechanisms, clinical manifestations, and diagnostic and therapeutic strategies of CFD. Elucidate, which leads to bone homeostasis imbalance and fibrotic abnormalities. It focuses on the molecular mechanisms underlying multi-pathway network dysregulation induced by GNAS gene mutations and explores the roles of key molecules like cAMP-response element binding protein, interleukin-6 and Fibroblast growth factor 23 in disease progression. Additionally, it evaluates the limitations of traditional treatments and the translational potential of novel strategies, including targeted therapies, offering a theoretical foundation for clinical practice and future research directions.
