Fibrous Dysplasia

Fibrous dysplasia is a benign (noncancerous) bone condition in which abnormal fibrous tissue develops in place
of normal bone. As these areas of fibrous tissue grow and expand over time, they can weaken the bone—causing
it to fracture or become deformed.

Some patients with fibrous dysplasia experience few or no symptoms. In other cases, however, multiple bones
are affected and the condition is more severe. These patients may need surgery to remove the affected areas of
bone and prevent or repair any fractures or deformity.

Description
Fibrous dysplasia is rare, accounting for just about 7% of all benign bone tumors. It can affect any bone in the
body, but most often occurs in the:

Femur (thighbone)
Tibia (shinbone)
Ribs
Skull
Humerus (upper arm bone)
Pelvis

Fibrous dysplasia has been linked to a gene mutation that causes bone cells to make an abnormal type of fibrous
bone. Although the abnormal bone begins to form before birth, its presence is often not discovered until
childhood, adolescence or even adulthood.

The condition is generally divided into two types:

Monostotic fibrous dysplasia—only a single bone is affected. This is the most common form of the
condition.
Polyostotic fibrous dysplasia—more than one bone is involved. It can affect more than one bone within the
same limb or multiple bones throughout the body. This form of the condition is usually more severe. For this
reason, it is typically discovered earlier in life.

Fibrous dysplasia is a chronic disorder and is often progressive. Although the lesions may stabilize and stop
growing, they do not disappear. Individual lesions may progress more rapidly in the polyostotic form of the
condition and in growing children.

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 In patients with fibrous dysplasia, the same abnormality that occurs in the bone cells can also occur in the body's
gland cells, leading to hormonal abnormalities. Although this is rare, it can occur in severe forms of polyostotic
fibrous dysplasia.

Fibrous dysplasia may occur as part of a larger disorder. For example, McCune-Albright syndrome is
characterized by polyostotic fibrous dysplasia that occurs with hormonal abnormalities and areas of darkened skin
("café au lait" spots).

It is very rare for areas of fibrous dysplasia to become malignant or cancerous. This occurs in less than 1% of
patients and is more likely to happen in patients with the polyostotic form of the condition or in patients with
McCune-Albright syndrome.

Cause
The cause of the gene mutation is unknown. It is not inherited and is not known to be caused by diet or
environmental factors. The mutation occurs equally in males and females of all races.

Symptoms
In some cases, lesions are painless and do not cause symptoms. When this happens, the condition may be found
unexpectedly when x-rays or tests are performed for an unrelated injury or medical condition. When symptoms do
occur, they reflect the size and severity of the lesion.

Pain
As fibrous bone tissue grows and expands, the affected area can become weak and painful. Pain is more
likely to occur if the bone affected is one of the weight-bearing bones of the leg or pelvis.

Pain caused by fibrous dysplasia generally begins as a dull ache that worsens with activity and lessens
with rest. It can get progressively worse over time.

Fracture
Fibrous bone is very weak when compared to normal bone. It can sometimes break or fracture through the
weakened area causing sudden and severe pain. A fracture often occurs after a period of dull pain—
although it may also happen suddenly with no prior pain at all.

Fibrous dysplasia in the thighbone.

This x-ray shows a fracture at the tip of
the arrow.
Reproduced from Hillock RW, Zupan C:

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 Fibrous dysplasia. Orthopaedic
Knowledge Online Journal, 2007; 5(4).
Accessed February 2016.

Bone Deformity
In patients who experience repeated fractures, poor healing can lead to bone deformity. If this deformity
occurs in the facial bones or results in curving of the leg bones, it can become very noticeable.

Severe deformity in the facial bones can lead to loss of vision or hearing. If the legs or pelvis are involved,
the patient may have trouble walking or may develop arthritis in nearby joints.

X-ray showing a "shepherd's crook"

curvature deformity of the thighbone.
Reproduced from Hillock RW, Zupan C:
Fibrous dysplasia. Orthopaedic
Knowledge Online Journal, 2007; 5(4).
Accessed February 2016.

In these x-rays, the tibia has become

bowed from fibrous dysplasia.
Reproduced from Hillock RW, Zupan C:
Fibrous dysplasia. Orthopaedic

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 Knowledge Online Journal, 2007; 5(4).
Accessed February 2016.

Hormonal Disturbances
Patients with hormonal abnormalities can experience a number of symptoms.

Young patients with hormonal abnormalities may develop early puberty. This problem is more common in
girls than boys and is caused by hyperactivity of the ovaries. Hyperactivity may also occur in other glands
of the body, including the:

Thyroid gland (causing anxiety, weight loss, and abnormal sweating)

Adrenal glands (causing weight gain and diabetes)
Pituitary gland (causing milk production in women, gigantism, and a hormonal disorder called
acromegaly)
Parathyroid glands (causing high levels of calcium in the blood)

Females may experience increased pain during pregnancy or their menstrual cycle as the elevated
hormone levels during these times can accelerate the growth of fibrous dysplasia.

Skin Discoloration
Pigmented skin spots are often seen in patients with hormonal abnormalities and fibrous dysplasia.

Light brown "café au lait" spots are a

common sign of fibrous dysplasia.
Reproduced from Hillock RW, Zupan C:
Fibrous dysplasia. Orthopaedic
Knowledge Online Journal, 2007; 5(4).
Accessed February 2016.

Changes in Symptoms
Very rarely, areas of fibrous dysplasia can become cancerous. When this occurs, warning signs may
include a rapid increase in swelling or growth of a lesion. Patients may also experience increasing pain—
especially pain that awakens them at night or does not go away with rest.

Doctor Examination

Physical Examination
During the exam your doctor will talk with you about your general health and medical history and ask about
your symptoms.

Tests
X-rays and other tests will help your doctor confirm the diagnosis of fibrous dysplasia or determine the
extent of the disorder.

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 X-rays. X-rays provide images of dense structures such as bone. In a patient with fibrous dysplasia, an x-
ray may show:

An abnormal area of bone that has an appearance similar to that of ground glass
Expansion of the involved area of bone
Deformity of the bone, such as bowing or an abnormal curvature

X-ray shows the "ground glass"

appearance of fibrous dysplasia.
Reproduced from Hillock RW, Zupan C:
Fibrous dysplasia. Orthopaedic
Knowledge Online Journal, 2007; 5(4).
Accessed February 2016.

Other imaging studies. Your doctor may order a magnetic resonance imaging (MRI) or computerized
tomography (CT) scan to further evaluate the lesion. An MRI will more clearly show how much of the bone
is involved and can be helpful in determining whether or not a lesion has become cancerous.

Although a fracture can generally be seen on an x-ray and/or MRI, a CT scan can sometimes help your
doctor see the fracture better and determine the quality of the bone.

Bone scan. Your doctor may order a bone scan to look for additional
lesions throughout your entire skeleton. During this test, a very small
amount of radioactive dye is injected into the body intravenously. The scan
will show a "hot spot"—an increased uptake of the radioactive material—in
areas of abnormal bone.

Laboratory tests. When fibrous dysplasia lesions are actively growing,

blood tests may show elevated levels of the enzyme alkaline phosphatase.
Urine tests tend to show elevated levels of hydroxyproline. However, these
abnormalities are not specific to fibrous dysplasia and are not always
present. They can sometimes be seen in other medical conditions that
involve bone growth—and can even be seen in normal bone growth.
Bone scan shows an uptake of
Biopsy. A biopsy may be necessary to confirm the diagnosis of fibrous radioactive dye near the end of
dysplasia. In a biopsy, a tissue sample from the lesion is taken and the thigh bone (arrow).
examined under a microscope. Reproduced from Hillock RW,
Zupan C: Fibrous dysplasia.

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 A biopsy can be performed under local anesthesia with a needle or as a Orthopaedic Knowledge Online
Journal, 2007; 5(4). Accessed
small open operation.
February 2016.

Treatment

Nonsurgical Treatment
Observation. If your lesions do not cause symptoms, your doctor may recommend observation and
monitoring them to see if they progress. During this time you may need periodic x-rays or other tests.

Medications. Bisphosphonates are medications that decrease the activity of cells that dissolve bone. They
have recently become available in easy-to-take pill form. These medications have not yet been used
extensively in the treatment of fibrous dysplasia; however, early studies have shown effective relief of the
pain associated with the disorder.

Bracing. In some cases, bracing may be used to prevent fracture in weakened bones. However, bracing
has not been shown to be effective in preventing progression of deformity.

Surgical Treatment
In patients with fibrous dysplasia, surgery is often necessary to remove a growth or to fix or prevent bone
fractures. Your doctor may recommend surgery if you have:

Symptomatic lesions that have not responded to nonsurgical treatment

Displaced fractures—a break in which the pieces of bone have significantly separated from each
other
Hairline cracks in the bone that do not heal with casting or bracing
Progressive deformity of the bone
Lesions that have become cancerous
Large lesions that could potentially cause a fracture

Curettage. Curettage is a surgical procedure commonly used to treat fibrous dysplasia. In curettage, the
tumor is scraped out of the bone.

Bone graft. After curettage, the doctor may fill the cavity with a bone graft to help stabilize the bone. A
bone graft is bone taken from a donor (allograft) or from another bone in your body (autograft)—most often
the hip. Synthetic bone material can also be used to fill the cavity.

In some cases the bone graft placed in the cavity can be resorbed and the fibrous dysplasia can recur.

Internal fixation. Metal rods or plates and screws may be used to fix a fracture or deformity, prevent bone
breakage before it occurs, or stabilize the bone.

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 In this x-ray, metal implants have been
used to stabilize a thighbone that has
fractured due to fibrous dysplasia.
Reproduced from Hillock RW, Zupan C:
Fibrous dysplasia. Orthopaedic
Knowledge Online Journal, 2007; 5(4).
Accessed February 2016.

Research on the Horizon

Ongoing genetic research may lead to a better understanding of the exact gene mutation involved in fibrous
dysplasia. Doctors may then be able to develop more effective nonsurgical treatments.

Newer generations of medications, including bisphosphonates, are now easier to take and have fewer side
effects. More experience with these medications may allow for more effective treatment of fibrous dysplasia as
well.

If you found this article helpful, you may also be interested in Bone Tumor (topic.cfm?topic=A00074).

Last reviewed: February 2016

Contributed and/or Updated by: Gina Lesko, MD; Robert H. Quinn, MD
Peer-Reviewed by: Stuart J Fischer, MD; Colin F. Moseley, MD; Rajiv Rajani, MD
Contributor Disclosure Information

AAOS does not endorse any treatments, procedures, products, or physicians referenced herein. This information is provided as an
educational service and is not intended to serve as medical advice. Anyone seeking specific orthopaedic advice or assistance should
consult his or her orthopaedic surgeon, or locate one in your area through the AAOS "Find an Orthopaedist" program on this
website.

Copyright 2016 American Academy of Orthopaedic Surgeons

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Bone Tumor (http://orthoinfo.aaos.org/topic.cfm?topic=A00074)
Internal Fixation for Fractures (http://orthoinfo.aaos.org/topic.cfm?topic=A00196)

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