fibrous dysplasia

Introduction

chronic disorder of the skeleton

Epidemiology

• very uncommon disorder
• usually diagnosed in children & young adults
• no sex or racial bias

Pathology

• expansion of one or more bones due to abnormal development of the fibrous connective tissue within the bone
• uneven growth, brittleness & deformity in affected bones
• most common sites of the disease are the femur, tibia, ribs, skull, facial bones, humerus, pelvis
  • vertebrae are less frequently involved
  • any bone can be affected by fibrous dysplasia,
• does not spread from one bone to another
• multiple affected bones are often found on one side of the body

Clinical manifestations

• bone pain (expanding fibrous tissue in the bone_
• bone deformity
  • most obvious when it occurs in the skull & facial bones
  • fibrous dysplasia of the skull may cause loss of vision & hearing
• fracture most often in the long bones of the legs
• arthritis can develop in the hips & knees

Laboratory

• bone biopsy

Radiology

• characteristic appearance on X-ray

Complications

• osteosarcoma (uncommon)

Management

• surgery
  • indications
    • relieve intractable bone pain
    • improve mobility that may be impaired due to skeletal deformity
    • facilitate the healing of fractures
    • relieve local pressure on the spinal cord, spinal nerves, or brain
    • excision of osteosarcoma
  • surgical procedures
    • removal of affected bone followed by bone grafting in patients with persistent bone pain
    • removal of a wedge of bone with placement of pins & bone grafts to correct deformities
• pharmaceutical agents
  • pamidronate (Aredia)
• treat hormonal disturbances (see McCune Albright syndrome)
• exercise is helpful in avoiding weight gain & in maintaining mobility of the joints
  • supervision to minimize risk of fracture

Prognosis:

• great variability in the clinical course of this disorde
• young patients who have fibrous dysplasia in many bones may have more problems

More general terms

• bone disease; osteopathia
• developmental disorder
• dysplasia

Additional terms

• fibrous tissue
• McCune-Albright syndrome

Patient information

fibrous dysplasia patient information