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Fibrous dysplasia (FD) is a condition where normal bone is replaced by scar–like tissue, making the affected areas more prone to fractures. This rare skeletal disease can damage one, multiple, or the entire skeleton.
Fibrous dysplasia can happen to any bone. Monostotic FD refers to the occurrence of this condition in one bone, polyostotic FD if it affects multiple bones, and panostotic FD if it involves all bones in the body. Fibrous dysplasia does not spread from one bone to another and is rarely cancerous.
Bones that are mostly affected by FD include facial bones, pelvis, ribs, shinbone (tibia), skull, thighbone (femur), upper arm bone (humerus), and vertebrae in the spine. Symptoms may include bone pain and deformity, bone fractures, and scoliosis. Treatment options may include medication and surgery.
Symptoms
The symptoms of FD can range from minor to severe. The symptoms may vary for every person. Some people may not exhibit any signs or symptoms at all.
Occasionally, fibrous dysplasia manifests as one component of a cluster of conditions termed McCune–Albright syndrome. This syndrome impacts bones, endocrine tissues responsible for hormone production, and the skin.
This syndrome results in a variety of symptoms, including café–au–lait spots on the skin and the early onset of puberty.
Common signs and symptoms of FD include:
- Bone fractures
- Bone deformity
- Extreme tiredness, especially in young children
- Weakness and bone pain in the afflicted area
- Scoliosis, or a sideways curve of the spine
- A waddling walk
- Endocrine–related issues, such excessive growth hormone production, an overactive thyroid, and early puberty
Symptoms may appear not related to the bones, these symptoms come with FD:
- Loss of vision or hearing if certain nerves are squeezed as a result of the fibrous bone tissue
- Bulging eyes, nasal congestion, and uneven jaws if FD affects facial bones
Cause
The exact cause of fibrous dysplasia is unknown. It is believed to be caused by a chemical flaw in a particular bone protein. Although the illness is not known to run in families, this deficiency may be caused by a gene mutation that was present at birth. The mutation must have occurred in one gene that controls bone growth and development.
Risk factors
Fibrous dysplasia can occur in anyone at any age. However, majority of the cases are diagnosed among children ages 3 to 15. Both men and women are also equally affected by it. The bone defect is thought to manifest in childhood but may go undiscovered unless there is pain associated with it, a limp appears, or a fracture occurs. This condition has no relation to any ethnicity or region.
Diagnosis
The diagnosis of fibrous dysplasia involves the following:
- Physical examination: This is to assess the symptoms, review of personal and family’s medical history, and do the physical exam.
- Lab tests: Blood and urine tests may reveal higher levels of specific enzymes and amino acids when fibrous dysplasia lesions are actively developing.
- Imaging tests: An X–ray records images of the bones, organs, and interior tissues that may help with the diagnosis. To further examine the afflicted bones, MRI or CT scan may be requested.
- Biopsy: This procedure can assist in identifying the presence of cancer or other aberrant cells. A tissue sample from the affected bone is taken and subjected to laboratory analysis.
- Bone scan: A very small quantity of radioactive dye is IV–injected into the body during this examination. This if often done to check for further lesions throughout the entire skeleton.
Treatment
In treating fibrous dysplasia several factors must be considered such as the patient’s age, overall health, and medical history, tolerance for specific medicines, procedures, or therapies, and severity of the condition. Depending on the symptoms, the healthcare provider may only suggest regular monitoring of the condition.
- Medications: Bisphosphonates may be prescribed to alleviate pain and reduce the risk of fractures, while ongoing research assesses the efficacy of denosumab. Denosumab is a medication often employed in osteoporosis treatment.
- Surgery: Surgical interventions might involve inserting a rod inside the bone’s shaft, excising the impacted bone with subsequent bone grafting, or removal of bone wedge. Plates and screws may also be used to support the bone. Surgery may be recommended to help the bone stay in place, fix deformity, and stop subsequent fractures. Performing contouring or “shaving” of the impacted bone can lead to swift regrowth.
- Other treatments: Braces may offer fracture prevention benefits for certain individuals. Other pain management techniques and physical therapy may help people with FD.
