Craniofacial fibrous dysplasia: Molecular insights, long-term institutional experience, and evolving surgical...

Craniofacial fibrous dysplasia (CFD) is a rare benign fibro-osseous disorder characterized by the replacement of normal bone with fibrous tissue, frequently resulting in craniofacial deformity, functional impairment, and neurological complications. Its pathogenesis is strongly associated with somatic GNAS gene mutations, which disrupt osteoprogenitor cell differentiation.

This study presents a 35-year retrospective review (1985-2019) of patients diagnosed with CFD at the National Cancer Institute of Mexico. Six adult patients (mean age 42.6 years, 66.7% females) met inclusion criteria. Polyostotic disease predominated (83.3%), with the sphenoid and ethmoid bones most frequently involved. Facial dysmorphism was the initial manifestation in 83.3% of cases, whereas headache was less common. Visual acuity was preserved in most patients, although cranial nerve involvement was identified in two cases. Using Chen's classification, multilocal disease affecting all three craniofacial zones was the most prevalent pattern (50%), correlating with greater surgical complexity. The mean Karnofsky Performance Status was 95, reflecting good functional status despite the disease burden. Two representative complex cases illustrate the challenges of surgical decision-making, highlighting the role of staged resections, craniofacial reconstruction, and the integration of advanced technologies such as virtual surgical planning and biomaterials.

Although surgery remains the cornerstone in symptomatic or deforming cases, recurrence and complications often require repeated interventions. Our findings emphasize the need for individualized, multidisciplinary management strategies, long-term follow-up, and the incorporation of evolving surgical and medical therapies to optimize outcomes and quality of life in patients with CFD.