[Craniofacial fibrous dysplasia]

Area of Science:

• Orthopedics
• Genetics
• Pathology

Background:

• Fibrous dysplasia of bone is a rare, congenital skeletal disorder characterized by benign, sporadic mutations.
• It results from activating somatic mutations in the GNAS gene, affecting osteogenic cell proliferation and leading to abnormal bone formation.
• This condition can manifest as monostotic (single bone) or polyostotic (multiple bones) disease and is associated with McCune-Albright and Mazabraud syndromes.

Purpose of the Study:

• To outline the clinical presentation and diagnostic approaches for craniofacial fibrous dysplasia.
• To discuss current and potential therapeutic strategies for managing fibrous dysplasia, particularly refractory cases.

Main Methods:

• Review of the genetic basis (GNAS mutation) and pathophysiology involving IL-6.
• Clinical diagnosis based on symptoms such as headache, neuralgia, sensory and functional deficits, and infectious complications.
• Imaging techniques including craniofacial CT scans and MRI; bone biopsy is not routine.

Main Results:

• Craniofacial fibrous dysplasia symptoms necessitate prompt diagnosis through imaging.
• Surgical intervention is considered for neurological complications, deformities, or active lesions.
• Intravenous bisphosphonates are a treatment option for pain, with promising results from IL-6 receptor monoclonal antibodies in non-responders.

Conclusions:

• Early diagnosis of craniofacial fibrous dysplasia is crucial, guided by specific symptoms and confirmed by imaging.
• Management involves a stepwise approach, including surgery, bisphosphonates, and emerging therapies targeting IL-6.
• Further randomized studies are needed to validate the efficacy of IL-6 receptor antagonists.