Fibrous dysplasia — Irregular bone growths can cause pain, bone deformities or fractures. Treatments may manage pain and stabilize bones.
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.
Fibrous dysplasia may cause few or no signs and symptoms, particularly if the condition is mild. More severe fibrous dysplasia may cause:
Fibrous dysplasia can affect any bone in the body, but the most commonly affected bones include the following:
Rarely, fibrous dysplasia may be associated with a syndrome that affects the hormone-producing glands of your endocrine system. These abnormalities may include:
Increased bone pain also may be associated with the normal hormonal changes of the menstrual cycle or pregnancy.
See your doctor if you or your child develops any of the following:
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.
Severe fibrous dysplasia can cause:
The primary tool for diagnosis of fibrous dysplasia is an X-ray. While bone appears solid in an X-ray, a fibrous dysplasia lesion has a relative distinct appearance often described as "ground glass." The condition may be diagnosed, therefore, even in a person with no symptoms who is getting an X-ray for other reasons.
An X-ray can also help your doctor determine how much of the bone is affected and whether there is any deformity in the bone.
Additional tests may be used to confirm a diagnosis or rule out other disorders:
If you have mild fibrous dysplasia that's discovered incidentally and you have no signs or symptoms, your risk of developing deformity or fracturing your bone is low. Your doctor will likely monitor your condition with periodic X-rays.
Osteoporosis medications called bisphosphonates help prevent bone loss by decreasing the activity of cells that normally dissolve bone. Some studies suggest that bisphosphonates may strengthen bones affected by fibrous dysplasia and may relieve bone pain.
Your doctor may recommend surgery in order to:
Surgery may involve removing the bone lesion and replacing it with a bone graft: bone from another part of your body, bone tissue from a donor or a synthetic material. In some cases a fibrous dysplasia lesion may develop again.
Your surgeon also may insert metal plates, rods or screws to prevent fractures or to stabilize a bone or bone graft.
Most people with fibrous dysplasia don't have symptoms and are diagnosed when an X-ray taken for another reason reveals signs of fibrous dysplasia.
However, in some cases you or your child may experience pain or other symptoms that lead you to schedule an appointment with your family doctor or your child's pediatrician. In some cases, you may be referred to a doctor who specializes in treating bone and muscle injuries or disorders (orthopedic surgeon).
Before your appointment, you might want to compose a list of answers to the following questions and be ready to discuss them with your doctor:
December 24th, 2020