Childhood fibrous dysplasia

Area of Science:

• Orthopedics
• Genetics
• Radiology

Background:

• Fibrous dysplasia is a rare, non-malignant bone disorder.
• Diagnosis can be challenging, especially for monostotic forms.
• It may occur in isolation or as part of McCune-Albright syndrome.

Purpose of the Study:

• To summarize current understanding of fibrous dysplasia diagnosis and management.
• To highlight the role of imaging and genetic testing.
• To outline orthopedic treatment strategies, particularly in children.

Main Methods:

• Review of diagnostic modalities including X-ray, CT, and bone biopsy for GNAS mutation.
• Discussion of international guidelines for diagnosis and patient management.
• Analysis of orthopedic interventions, from monitoring to surgical correction.

Main Results:

• Radiological examinations are crucial for diagnosis and localization.
• GNAS gene mutation screening aids in diagnostic doubt.
• Management involves analgesics, bisphosphonates, and tailored orthopedic surgery.

Conclusions:

• Fibrous dysplasia requires a multidisciplinary approach involving imaging, genetics, and orthopedics.
• Surgical management, especially intramedullary nailing, is key for complex cases in children.
• While no cure exists, interventions improve quality of life and manage complications.