Research progress on diagnosis and treatment of craniofacial fibrous dysplasia: a narrative review

Background and Objective: Craniofacial fibrous dysplasia (CFD) is a rare craniofacial fibro-osseous disorder lacking long-term comprehensive regimens to control disease progression. The objective of this article is to summarize the latest basic and clinical advances in CFD to provide a reference for CFD diagnosis and individualized management.

Methods: This narrative review was completed by reviewing the literature (1938 to March 2026) in PubMed to identify all relevant studies in English regardless of the study design to allow for a comprehensive review.

Key Content and Findings: GNAS mosaic gain-of-function mutations are the core etiology of CFD. Mutations constitutively activate Gsα/cAMP signaling to block normal osteogenic differentiation, and mutant multi-lineage cells combined with inflammatory microenvironment accelerate bone resorption and fibrous overgrowth. Mutation timing and genomic imprinting cause heterogeneous clinical phenotypes, which can be grouped into non-syndromic monostotic/polyostotic CFD and syndromic McCune-Albright or Mazabraud syndrome. Syndromic lesions feature more aggressive progression and complicated endocrine complications. Distinct types of lesion-related pain alongside facial deformity and organ dysfunction severely compromise patients’ physical and mental health. Computed tomography is the preferred diagnostic examination, and artificial intelligence (AI)-aided radiomics improves the discrimination efficiency between fibrous dysplasia and ossifying fibroma. Clinical management of CFD follows multidisciplinary individualized principles. Surgery remains the main intervention measure, and operation timing will be postponed until endocrine has normalized in syndromic patients. Common drugs including bisphosphonates and denosumab relieve bone pain effectively but carry the risk of lesion rebound after drug cessation, while various innovative medicines are being tested in ongoing clinical trials. Regular long-term monitoring covering endocrine indicators and serial imaging helps timely spot malignant transformation. AI has achieved an emerging application in auxiliary diagnosis and preoperative design, and gene editing targeting GNAS mutation stays at preclinical stage to bring new targeted treatment prospects for intractable patients.

Conclusions: As CFD has received growing scientific and clinical attention, extensive research efforts have been undertaken globally. Looking forward, it is anticipated that by integrating cutting-edge findings from basic research and clinical trials, along with emerging technologies such as AI and gene editing, more effective, safe, and reliable integrated management strategies can be developed.