Fibrous Dysplasia

Fibrous dysplasia (FD) is an uncommon disorder of the skeleton that is rarely cancerous (less than 1 percent). This disorder results in fibrous bone-like tissue that replaces normal, healthy bone, causing the affected areas to be more susceptible to fractures (broken bone).

Causes

  • Fibrous dysplasia results from a genetic mutation (change) on chromosome 20.

  • This mutation happens on one gene that directs bone formation and growth, but what causes this mutation to occur remains unknown.

Symptoms

  • Fatigue, particularly in young children

  • Pain and weakness in the areas affected

  • Fractures or breaks

  • Misshapen bones (bone deformity)

  • Cafe au lait spots

  • Signs and symptoms of underlying endocrine disorders such as growth hormone excess, overactive thyroid and early puberty

Diagnosis

FD is diagnosed by physicians with expertise in metabolic bone diseases. A physical exam, X-rays or other imaging, and blood or other tests may be used.

Prognosis

  • Individuals with milder forms of FD often live normal, otherwise healthy lives.

  • The prognosis is as widely variable as the disorder itself, and is based on the bones affected, whether other structures such as nerves are affected, and whether fractures occur.

  • Fibrous dysplasia can affect many bones in the body, but once it has established in the skeleton, it doesn’t spread.

Treatment

  • Treatment for fibrous dysplasia depends on the severity of the disorder and the presence of symptoms.

  • In some cases, doctors simply monitor your bone health to make sure FD does not get worse.

  • Doctors frequently prescribe medications called bisphosphonates in an effort to ease pain and help prevent fractures.

  • Studies are ongoing to determine the effectiveness of denosumab (Prolia®), which is a drug commonly used to treat osteoporosis.

  • For some people, braces can help prevent bone fractures.

  • Surgery may become necessary if a bone affected by FD breaks. Surgery can stabilize the bone, correct disfigurement and prevent further fractures.

  • Sometimes doctors use metal plates, rods or screws to stabilize the bones. Contouring or shaving affected bone can result in rapid regrowth.

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