Findings: Multiple outgrowths and deformed expansile bones.

Diagnosis: Fibrous dysplasia

Findings on Imaging:

  • Imaging studies such as X-ray, CT, or MRI may show characteristic findings of fibrous dysplasia, including areas of abnormal bone formation that are thickened and irregular.
  • On X-ray, the affected bone may appear mottled or ground-glass-like, with areas of increased density and decreased bone formation.
  • On CT or MRI, the affected bone may show characteristic features such as a “shepherd’s crook” deformity in the femur or bowing of the long bones. Fibrous dysplasia can also involve the skull, causing deformities or thickening of the bone in the cranial vault.

Next Steps in Management:

  • Management of fibrous dysplasia depends on the extent and location of the disease, as well as the presence of any symptoms or complications.
  • Treatment options may include observation, pain management, surgery, or medication to reduce bone resorption.
  • Regular imaging follow-up is recommended to monitor for changes in bone density or shape.

Key Take Away Points:

  • Fibrous dysplasia is a rare genetic disorder that affects the bone tissue, causing areas of abnormal bone formation that are thickened and irregular.
  • Imaging studies such as X-ray, CT, or MRI can help diagnose fibrous dysplasia and determine the extent and location of the disease, which may involve the skull.
  • On imaging, the affected bone may appear mottled or ground-glass-like, with areas of increased density and decreased bone formation.
  • Treatment of fibrous dysplasia may include observation, pain management, surgery, or medication, as well as regular imaging follow-up to monitor for changes in bone density or shape.

Credit: Case submitted by Dr. Michele Anzidei to radRounds Radiology Network