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Definition

What is fibrous dysplasia?

Fibrous dysplasia is an uncommon bone disorder in which scar-like (fibrous) tissue develops in place of normal bone. This irregular tissue can weaken the affected bone and cause it to deform or fracture.

In most cases, fibrous dysplasia occurs at a single site in one bone, but can occur at multiple sites in multiple bones. Single bone involvement usually occurs in adolescents and young adults. People who have more than one affected bone typically develop symptoms before the age of 10.

Although fibrous dysplasia is a genetic disorder, it’s caused by a gene mutation that’s not passed from parent to child. There’s no cure for the disorder. Treatment, which may include surgery, focuses on relieving pain and repairing or stabilizing bones.

How common is fibrous dysplasia?

Fibrous dysplasia is an uncommon disorder. It is usually diagnosed in children and young adults, and is present throughout life. The likelihood of getting the disease does not appear to be influenced by gender, race, ethnic background, geographic location, or by any environmental exposures. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of fibrous dysplasia?

Fibrous dysplasia may cause few or no signs and symptoms, particularly if the condition is mild. More severe fibrous dysplasia may cause:

  • Bone pain, usually a mild to moderate dull ache
  • Swelling
  • Bone deformity
  • Bone fractures, particularly in the arms or legs
  • Curvature of leg bones

Fibrous dysplasia can affect any bone in the body, but the most commonly affected bones include the following:

  • Thighbone (femur)
  • Shinbone (tibia)
  • Upper arm bone (humerus)
  • Skull
  • Ribs
  • Pelvis

Rarely, fibrous dysplasia may be associated with a syndrome that affects the hormone-producing glands of your endocrine system. These abnormalities may include:

  • Very early puberty
  • Overactive hormone production
  • Light brown spots on the skin

Increased bone pain also may be associated with the normal hormonal changes of the menstrual cycle or pregnancy.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

You should contact your doctor if you have any of the following:

  • Bone pain that increases with weight-bearing activity or doesn’t go away with rest
  • Bone pain that interrupts sleep
  • Difficulty walking or limping
  • Unexplained swelling
  • Changes in bone shape
  • Difference in limb length

Causes

What causes fibrous dysplasia?

Fibrous dysplasia is linked to a gene mutation present in certain cells that produce bone. The mutation results in the production of immature and irregular bone tissue. Most often the irregular bone tissue (lesion) is present at a single site on one bone. Less often multiple bones are affected, and there may be more than one lesion on multiple bones.

A lesion usually stops growing sometime during puberty. However, lesions may grow again during pregnancy.

The gene mutation associated with fibrous dysplasia occurs after conception, in the early stages of fetal development. Therefore, the mutation isn’t inherited from your parents, and you can’t pass it on to your children.

Risk factors

What increases my risk for fibrous dysplasia?

Please discuss with your doctor for further information.

 

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is fibrous dysplasia diagnosed?

The bones in people with fibrous dysplasia have a characteristic appearance on x rays, which is usually sufficient to make the diagnosis. Other imaging tests, such as magnetic resonance imaging (MRI) or computed tomography (CT) may also be indicated. In some cases, a doctor may need to obtain a small bone specimen (a biopsy) to confirm the diagnosis. The usefulness of gene testing is not clear. Since the mutated gene is only present in fibrous dysplasia tissues, it is best to test only the DNA from affected tissue, but even then, doctors do not know with certainty how useful such a test is.

How is fibrous dysplasia treated?

There is no cure for fibrous dysplasia. Like most medical conditions, one treats the symptoms or problems as they arise. Fractures often require surgery, but can sometimes be treated with just a cast. Surgeries are recommended if a fracture is likely to occur, or in an effort to correct the shape of the bone. Surgery may also be indicated to relieve bone pain. Medications known as bisphosphonates—approved by the U.S. Food and Drug Administration for the treatment of other bone diseases—have been shown to reduce pain associated with the disease. Bone-healthy strategies such as physical activity (with physician approval), and adequate calcium, phosphorus, and vitamin D intake are also important.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage fibrous dysplasia?

Please discuss with your doctor for further information.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: November 10, 2017 | Last Modified: November 10, 2017

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