Fibrous dysplasia

Fibrous dysplasia is a rare bone disorder in which fibrous tissue develops in place of normal bone. This can lead to fractures and deformity of the affected bones. Fibrous dysplasia can occur in any part of the skeleton but the bones of the skull and face, thigh, shin, ribs, upper arm and pelvis are most commonly affected.

Causes

Fibrous dysplasia is caused by a mutation in the GNAS1 gene. This gene provides instructions for producing a protein that helps regulate the growth and development of many types of cells, including bone-forming cells. The mutation that causes fibrous dysplasia occurs after conception, in the early stages of development. This is known as a somatic mutation.

Symptoms

The symptoms of fibrous dysplasia can vary greatly from person to person. Some people may have no symptoms while others may experience pain, deformity, and fractures. The symptoms can also vary depending on which bones are affected. For example, if the skull or facial bones are affected, the person may have facial deformity or hearing loss.

Diagnosis

Fibrous dysplasia is usually diagnosed through a combination of physical examination, imaging tests, and biopsy. Imaging tests such as X-rays, CT scans, and MRI can show the characteristic changes in the bones that are seen in fibrous dysplasia. A biopsy, in which a small sample of bone is removed and examined under a microscope, can confirm the diagnosis.

Treatment

There is currently no cure for fibrous dysplasia. Treatment is aimed at managing symptoms and preventing complications. This may include pain management, physical therapy, and surgery to correct deformities or fractures. Bisphosphonates, a type of medication that slows down the rate at which bone is broken down, may also be used.

See also

• Bone disorders
• Genetic disorders
• Rare diseases

References

Fibrous dysplasia Resources
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