Fibrous Dysplasia Symptoms and Diagnosis
Symptoms of fibrous dysplasia may include:
- Head or facial deformities.
- Bone pain.
- Swelling.
Other symptoms may include light brown birth marks café-au-lait spots) and endocrine dysfunctions such as:
- Premature puberty.
- Hyperthyroidism.
- Excessive production of growth hormone.
These are signals of a condition called McCune-Albright syndrome, of which polyostotic fibrous dysplasia is one manifestation.
To help diagnose fibrous dysplasia your doctor will:
- Perform a physical exam.
- Ask you about your symptoms.
- Order imaging and other diagnostic tests.
Tests for diagnosing fibrous dysplasia
Images provided by x-rays, MRI, and CT scans can reveal the presence and extent of abnormal tissue in the affected bones.
Your doctor may also order a bone scan.
In cases of polyostotic fibrous dysplasia, you may also need blood tests to assess endocrine function.
If your doctor suspects cancer — which is rare — they may order a biopsy. In severe cases of fibrous dysplasia, the bone lesions can become cancerous.