Fibrous Dysplasia

Overview

Fibrous dysplasia is a rare bone condition. Normal bone is replaced by soft, fibrous tissue, which can make bone weaker or change its shape. It can affect one bone or several bones. It is present from birth but may not be noticed until childhood or later.

It is uncommon. Most general doctors will see very few cases in their whole career.

It can affect anyone. Because it is present at birth, it is often found in children and young adults. It is not usually inherited and is not caused by lifestyle.

Symptoms

Common symptoms

• No symptoms at all, especially when only a small area is affected
• Bone pain, often a dull ache
• Swelling or a lump over a bone
• A bone that looks bent or uneven
• A break (fracture) from a minor injury
• Limping or trouble walking
• Uneven shape of the face or skull
• Hearing or vision changes if bones near the skull are affected

Symptoms in children

• Bowing of the leg bones
• Limping or a preference not to walk
• Bone pain or swelling
• Fractures from normal play or minor falls
• Early puberty
• Light brown, flat skin marks called cafe-au-lait patches
• Uneven growth or a difference in limb length

Symptoms in older adults

• Most people are diagnosed in childhood or young adulthood, so older adults often already know they have it.
• Ongoing pain, stiffness, or fractures may become more noticeable as bones age.
• A new bone lesion in an older adult should be checked by a doctor to rule out other causes.

Causes

Main causes

• Fibrous dysplasia is caused by a change in a gene called GNAS. This change happens in one cell after conception, while a baby is growing. It is called a somatic mutation.
• This gene change is not passed from parent to child in most cases. It is not caused by anything a parent did or did not do.

Risk factors

• There are no known lifestyle risk factors you can control.
• The severity depends on which bones are affected and how much of the bone is involved.
• It is not caused by injury, diet, infection, or parenting.

When to see a doctor

See a doctor urgently if:

• Sudden vision loss, seizure, or a severe headache with confusion or weakness needs emergency care, not a routine appointment.
• Fever with bone pain or swelling needs same-day medical advice.
• A new severe pain, a suspected fracture, or a sudden change in walking needs same-day care.

Book a routine appointment if:

• Ongoing bone pain, a limp, or swelling over a bone
• A bone that looks bent or an uneven shape of the face or skull
• Hearing or vision changes, even if mild
• A child with early puberty or unusual skin patches
• Any new symptom if you already have a diagnosis of fibrous dysplasia

Diagnosis

Doctors ask about your symptoms and examine you. Imaging scans are the main way to see fibrous dysplasia. Sometimes a small bone sample is needed to confirm the diagnosis.

Tests that may be done

• X-ray, to look at the shape and pattern of the bone
• CT scan or MRI scan, to see the bone and nearby tissues in more detail
• Bone scan, to show which areas of bone are active
• Blood tests, to check hormone levels and general bone health
• Biopsy, where a small sample of bone is looked at under a microscope

What to expect at your appointment

You may be referred to a bone specialist or another specialist. Diagnosis can take time and may need more than one scan. Write down your questions and bring someone with you if that helps.

Treatment

There is no cure for fibrous dysplasia, but care can manage symptoms and reduce problems. Treatment depends on which bones are affected, your age, and your symptoms.

Self-care at home

• Keep safe from falls and use good lighting at home
• Follow any physiotherapy plan to build strength and balance
• Use braces or supports if your care team advises them
• Avoid smoking, as it can harm bone health
• Keep up with dental, hearing, and vision checks if your skull is affected
• Ask your doctor before starting a new exercise or contact sport

Medical treatments

Doctors focus on easing pain, protecting bones, and watching for changes. Pain relief medicines may be recommended. Some people are offered prescription treatment to help bone strength or bone pain, but this is a specialist decision. Physical therapy, braces, and support for hormone problems can also help.

When is surgery considered?

Surgery may be suggested if a bone breaks, is likely to break, is badly bent, or if the condition presses on nerves, vision, or hearing. Surgery can straighten bone, reshape affected bone, or fix a fracture. Not everyone needs surgery; your specialist will weigh the benefits and risks.

Living with this condition

Many people see a specialist team and have regular check-ups. Learn how your body responds to activity, pace yourself, and ask for adjustments at school or work if you need them.

Lifestyle tips

• Stay active in safe ways, such as swimming or cycling, if your doctor agrees
• Avoid contact sports or high-impact activities if your bones are weak
• Remove trip hazards at home and use handrails on stairs
• Keep regular appointments with your care team

Diet and exercise

Eat a balanced diet with enough calcium and vitamin D. Ask your doctor if supplements are right for you. Weight-bearing exercise and physiotherapy can help strength and balance, but avoid high-impact activities if your bones are weak.

Mental health and emotional wellbeing

Living with a long-term bone condition can affect mood and confidence. Pain, changes in appearance, and uncertainty can cause anxiety or low mood. These feelings are common, and help is available. If you ever have thoughts of harming yourself, contact your local emergency number or a local crisis support service right away.

Prevention

Fibrous dysplasia cannot be prevented. It is caused by a gene change that happens by chance after conception. It is not caused by anything a parent did or did not do.

Vaccines

There is no vaccine that prevents fibrous dysplasia.

Screening programmes

There is no routine screening for the general population. If you have fibrous dysplasia, your care team may use regular check-ups and imaging to watch affected bones and catch changes early.

Complications

If left untreated

• Frequent fractures
• Bone deformity or bowing
• Ongoing pain
• Arthritis in nearby joints
• Nerve pressure causing numbness or weakness
• Vision or hearing loss if skull bones are affected
• Very rarely, a fibrous dysplasia lesion can become cancerous

Long-term outlook

Most people with fibrous dysplasia live full, active lives. Some need surgery or ongoing pain support, and regular follow-up is important. Specialists can manage most problems early. The rare risk of cancer is why check-ups matter, but it is uncommon.

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