From the Research
Fibrous dysplasia typically presents with bone pain, deformities, and pathological fractures, and is characterized by the replacement of normal bone with fibrous tissue, leading to weakened bones. This condition can cause a range of symptoms, including limping, uneven limb lengths, or visible bone deformities, particularly in the skull, femur, tibia, ribs, or facial bones 1. Some patients may remain asymptomatic, with lesions discovered incidentally on imaging, while others may experience significant morbidity due to the condition. The monostotic form, which accounts for 70-80% of cases, involves only one bone, while the polyostotic form involves multiple bones 2.
Key Characteristics of Fibrous Dysplasia
- Bone pain is present in half of patients and is the main determinant of quality of life 1
- Deformities and pathological fractures are common complications
- The condition can stabilize after skeletal maturity, but may require ongoing management to prevent complications
- McCune-Albright syndrome is a severe variant featuring polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and endocrine abnormalities like precocious puberty 3
Diagnosis and Management
Diagnosis typically requires radiographic imaging showing characteristic "ground glass" appearance, and may be confirmed with bone biopsy 4. Management may involve pain management, bisphosphonates for severe cases, or surgical intervention for fractures or significant deformities 5. Bisphosphonate therapy, such as pamidronate, may be effective in reducing bone pain and improving bone density, but its impact on the overall course of the disease is less clear 1.
Complications and Prognosis
Complications can include vision or hearing loss when cranial bones are affected, and rarely, malignant transformation occurs in less than 1% of cases 2. The condition often stabilizes after skeletal maturity, but may require ongoing management to prevent complications and improve quality of life 3. Overall, fibrous dysplasia is a complex condition that requires individualized management and ongoing monitoring to prevent complications and improve outcomes.