Craniofacial fibrous dysplasia is a rare form of the disease fibrous dysplasia. Fibrous dysplasia affects the bones, typically the bones in the arms and legs. Craniofacial fibrous dysplasia only affects the bones in the skull. It causes the bones to be replaced with a brittle tissue that’s less dense than normal bone. This can lead to easy fracturing in the head and face and can cause abnormal facial appearance. It’s typically diagnosed between the ages of three and fifteen.
Common symptoms of craniofacial fibrous dysplasia include:
Children who have craniofacial fibrous dysplasia may also experience weakness in other bones, which may extend to bone fractures and pain. There may also be hormonal issues and skin discoloration in certain children based on the type of craniofacial fibrous dysplasia present.
There are two types: monostotic and polyostotic. Monostotic only affects one bone and usually becomes dormant once a child finishes puberty. Polyostotic affects multiple bones and can remain active for life. Polyostotic craniofacial fibrous dysplasia can cause hormonal issues and pigmentation problems.
In some cases, children may not exhibit very noticeable symptoms.
Craniofacial fibrous dysplasia is thought to be caused by a genetic mutation that causes normal bone tissue to be replaced with fibrous bone tissue, although more research is needed to back this theory up. It is not passed from parent to child, so the mutation always occurs in the patient during development.
There are no known risk factors for craniofacial fibrous dysplasia.
If your healthcare provider suspects craniofacial fibrous dysplasia, they will take a thorough medical history from you and your child and do a physical examination of your child. For a definitive diagnosis, an imaging scan like an X-ray or computerised tomography (CT)scan may be ordered.
Blood work and testing of hormone levels may also be recommended. Complications of craniofacial fibrous dysplasia include difficulty breathing and compressed nerves that may affect vision or hearing.
Craniofacial fibrous dysplasia is treated with surgery. Surgery is typically performed in places where the incisions are not obviously visible. A skilled surgeon will use bone grafts to replace the fibrous tissue. They may also reduce the amount of bone put into your child’s face if the area that needs treating is very large or important to facial structure. Bone may also be removed if it’s compressing any nerves. Orthodontic treatment can also be utilised to address any jaw or teeth alignment issues.
Depending on where surgery is required, a plastic surgeon can work together with a neurologist or ophthalmologist to ensure optimal outcomes for your child regarding their nervous system and their eyes.
Children with craniofacial fibrous dysplasia do need continuous monitoring, but they go on to live long, happy lives.