Fibrous Dysplasia - My Child Has - Children's Hospital Boston

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Fibrous Dysplasia

Fibrous Dysplasia

Programs that treat this condition

Center for Head and Neck Tumors

What is fibrous dysplasia?

Fibrous dysplasia is a developmental abnormality of fibrous connective tissue and bony tissue that results in abnormal growth, pain and deformity of the affected bones. The condition is subdivided into three types:

Monomelic: This is the least complicated form of fibrous dysplasia that affects one bone. This type usually arises during the second or third decades of life, although if can occur at any age. The bone most often affected is femur (thigh), tibia (shin), rib cage or one of the facial bones.
Polyostotic: This form of fibrous dysplasia, which affects a younger age group than the monolemic form, can involve numerous bones, sometimes more than half of all bones in the skeletal system. It addition to bone deformity, this condition can lead to skin lesions, pathological fractures and leg length discrepancies.
McCune-Albright syndrome: This form of fibrous dysplasia, the most complex, is associated with abnormalities of the endocrine system. Although there is a broad spectrum of severity with this condition, this syndrome can involve polyostotic fibrous dysplasia and skin pigmentation. Endocrine problems most often include premature puberty, but can also include acromegaly, hyperparathyroidism, Vitamin D-resistant rickets, hyperthyroidism, and Cushing Syndrome. Sometimes short stature results from premature closure of growth plates in the affected bones.

What causes fibrous dysplasia?

The exact cause of fibrous dysplasia is unknown. No consistent familial or hereditary factors have been identified. However, a genetic mutation of the Gs alpha gene has been identified in patients with McCune-Albright syndrome. The polyostotic and McCune-Albright forms affect more females than males.

What are the symptoms of fibrous dysplasia?

Children experience fibrous dysplasia in a wide range of severity. Some experience many symptoms associated with endocrine abnormalities, while others appear entirely healthy, with little or no evidence of bone or endocrine involvement. The following some common symptoms associated with the condition:

Bone pain
Difficulty walking
Difficulty walking
Deformities of the leg or arm
Limb length discrepancy
Light to dark brown skin lesions or pigmentation

The symptoms of fibrous dysplasia may resemble other medical conditions or problems. Always consult a physician for a diagnosis.

How is fibrous dysplasia diagnosed?

In addition to a taking a complete medical history and performing a full physical examination, your child's doctor may use one or more of the following tests to diagnose fibrous dysplasia:

X-rays - a diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
Magnetic Resonance Imaging (MRI) - a diagnostic procedure that uses a combination of large magnets, radiofrequencies and a computer to produce detailed images of organs and structures within the body. This test is particularly useful in identifying tumors in areas that are difficult to image on a plain x-ray.
Computerized Tomography scan (also called CT or CAT scan) - a diagnostic imaging procedure that uses a combination of x-rays and computer technology to produce cross-sectional images (often called slices) both horizontally and vertically, of the body. A CT scan shows detailed images of any part of the body, including the bones, muscles, fat and organs.
bone scan - a nuclear imaging method to evaluate any degenerative and/or arthritic changes in the joints; to detect bone diseases and tumors; to determine the cause of bone pain or inflammation.
Complete blood count (CBC) - a measurement of size, number and maturity of different blood cells in a specific volume of blood
Blood tests - (including blood chemistries)

Treatment

Specific treatment for fibrous dysplasia will be determined by your child's physician based on:

your child's age, overall health, and medical history
extent of the disease
your child's tolerance for specific medications, procedures, or therapies
how your child's physician expects the disease may progress
your opinion or preference

It is technically difficult to totally eradicate the disease. The goal of intervention is usually to maintain bone strength and integrity, not to cure the bony lesions. Therefore treatment is aimed at correcting the associated deformities. Those lesions that are causing symptoms may be treated in any of the following ways:

splint/cast - immobilizes the affected area to promote bone alignment and healing to protect any injured area from motion or use.

Curettage/Bone Grafting: This is an operation that involves a surgical removal of the bony lesion by surgically scraping it out with a special instrument called a curette that has a scoop, loop or ring at its tip. The remaining cavity is then packed with donor bone tissue (allograft), bone chips taken from another bone (autograft), or other materials depending on the preference of the surgeon.

Wide excision: the surgical removal of the bony lesion and along with wide margins of surrounding healthy bone.

Internal fixation: a surgical procedure in which the bone is reconstructed with the use of metal plates and screws or rods. Often cortical bone grafts are combined with internal fixation to strengthen the bone in the lower extremities.

Osteotomy: At times, especially around the hip, the bone is bent and deformed by fibrous dysplasia. If the deformity is sever, the bone may have to be surgically cut a redirected to restore the proper shape of the bone.

Medical treatment: There are early studies that suggest that drugs that alter bone resorption (bisphosphonate) may help the pain of fibrous dysplasia and may strengthen the bone. At this time, this thereapy is not of proven value, but holds promise for the future.

What is the long-term outlook for a patient with fibrous dysplasia?

Prognosis for a patient with fibrous dysplasia varies from patient to patient depending on:

the severity of the condition
response to therapy
the age and overall health of your child
your child's tolerance for specific medication, procedures or therapies.

Since this is not a malignant disease, the prognosis is good. The severity of the symptoms is dependent on the extent and number of sites involved. In monostotic fibrous dysplasia, the prognosis is excellent if the bone can be strengthened. In polyostotic fibrous dysplasia, several operative procedures may be necessary to achieve bone strength and to correct deformity. The chance of malignant degeneration is extremely rare, and usually the result of radiation therapy.


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