Fibrous dysplasia is a rare, benign bone disease. It occurs when abnormal fibrous, scar-like tissue replaces healthy bone. The most common bones affected by fibrous dysplasia are:
- Pelvic bones.
- Ribs.
- Shinbone.
- Skull and facial bones.
- Thighbone.
- Upper arm bone.
UPMC provides comprehensive treatment for fibrous dysplasia, including minimally invasive procedures to remove, repair, and stabilize affected bones.
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What Is Fibrous Dysplasia?
Fibrous dysplasia is a rare bone disorder. Abnormal, weak bone forms in place of normal bone tissue, thereby weakening the bone.
The disease begins early in life. Although it doesn't extend beyond the affected bones, it is irreversible.
The most common bones affected by this disease are:
- Pelvic bones.
- Ribs.
- Shinbone.
- Skull and facial bones.
- Thighbone.
- Upper arm bone.
What are the types of fibrous dysplasia?
Types of fibrosis dysplasia include:
- Monostotic fibrous dysplasia — The most common type, it affects only one bone.
- Polyostotic fibrosis dysplasia — Affects more than one bone and occurs in 20-30 percent of cases. Symptoms typically appear before age 10.
How common is fibrous dysplasia?
Fibrous dysplasia is a rare disorder. According to the American Academy of Orthopaedic Surgeons, fibrous dysplasia accounts for approximately 7 percent of all benign bone tumors.
What causes fibrous dysplasia?
Fibrous dysplasia is caused by a gene mutation that causes problems with bone-producing cells. Although the gene mutation occurs during a baby’s development in the womb, it is not hereditary (passed from biological parent to child). Researchers aren’t sure what causes it to occur.
Complications of fibrous dysplasia
Fibrous dysplasia can cause complications, including:
- Difficulty walking if the leg or pelvic bones are affected.
- Joint problems such as arthritis.
- Vision or hearing loss may occur if the skull bones are affected.
How can I prevent fibrous dysplasia?
Fibrous dysplasia is caused by a genetic mutation that occurs before birth. There is nothing you can do to prevent it.
What Are the Signs and Symptoms of Fibrous Dysplasia?
Symptoms of fibrous dysplasia may include:
- Bone deformities.
- Bone pain.
- Swelling.
Polyostotic fibrous dysplasia is a symptom of McCune-Albright syndrome. Other symptoms of McCune-Albright syndrome may include light brown birthmarks known as café-au-lait spots and endocrine problems, such as:
- Excessive production of growth hormone.
- Hyperthyroidism (producing too much thyroid hormone).
- Premature puberty.
When should I see a doctor about my fibrous dysplasia symptoms?
If you or your child has symptoms of fibrous dysplasia, schedule an appointment with your doctor as soon as possible. Early diagnosis and ongoing treatment may prevent serious complications.
How Do You Diagnose Fibrous Dysplasia?
To diagnose fibrous dysplasia, your doctor will perform a physical exam and review your symptoms and medical history. Your doctor will also order imaging tests.
What to expect during your visit
To diagnose fibrous dysplasia, your doctor will:
- Ask you about your symptoms.
- Order imaging and other diagnostic tests.
- Perform a physical exam.
- Review your medical history.
Tests to diagnose fibrous dysplasia
Tests to diagnose fibrous dysplasia may include:
- Biopsy — A procedure to remove a small portion of a bone lesion to check it for signs of cancer.
- Blood tests — Checks for problems with hormones produced by your endocrine system, which can be a sign of McCune-Albright syndrome.
- Bone scan — A nuclear imaging test that uses a radioactive tracer to show bone abnormalities.
- Imaging tests — Images provided by x-rays, MRI, and CT scans show abnormal tissue in affected bones.
Fibrous dysplasia prognosis
There is no cure for fibrous dysplasia, and bone damage is irreversible. However, fractures, deformities, and hormone problems may be effectively treated. Your prognosis will depend on the location and number of affected bones, as well as the extent of the damage.
How Do You Treat Fibrous Dysplasia?
The goal of fibrous dysplasia is to treat bone deformities, reduce symptoms, and improve quality of life. Treatment options include:
Surgery
Surgery may be necessary to treat fibrous dysplasia that causes chronic pain, fractures, or deformity. Surgical treatment for fibrous dysplasia involves partial removal of the affected bone. Surgeons may also stabilize the affected bone using metal plates, rods, or screws.
Minimally invasive surgery for fibrous dysplasia of the skull base
At UPMC, the preferred surgical treatment for fibrous dysplasia of the skull base is the endoscopic endonasal approach (EEA).
Although damage caused by fibrous dysplasia is irreversible, this state-of-the-art, minimally invasive treatment allows surgeons to:
- Access fibrous dysplasia lesions in the skull base through the natural corridor of the nose, without making an open incision.
- Remove the affected bone causing symptoms through the nose and nasal cavities.
Benefits of EEA include:
- No incisions to heal.
- No disfigurement.
- Faster recovery time.
To preserve vision, surgeons will perform optic nerve decompression in cases where fibrous dysplasia causes compression of the optic canal.
Why Choose UPMC for Fibrous Dysplasia Care?
When you choose UPMC for fibrous dysplasia care, you will receive:
- Access to board-certified specialists — Our multidisciplinary team of experts provides leading-edge, minimally invasive orthopaedic and neurosurgical care for people with fibrous dysplasia.
- Expert diagnosis and personalized care — Our team will develop a customized treatment plan to reduce your risk of complications and improve your quality of life.
- A full range of treatment options — We utilize the latest therapies and approaches to provide comprehensive care, including the minimally invasive endoscopic endonasal approach (EEA) for treating fibrous dysplasia of the skull base. EEA offers patients a faster recovery and fewer side effects when compared to traditional neurosurgical approaches.
