Osteopoikilosis

What is osteopoikilosis?

Osteopoikilosis (ahs-TEE-OH-poy-kah-low-sis) is a rare, inherited condition. It causes areas of bone tissue (usually near your joints) to become overly dense. The round, dense spots of bone develop during childhood. They stop forming when your skeleton reaches its adult (mature) state. The condition doesn’t affect bone strength and doesn’t require treatment.

How common is osteopoikilosis?

Approximately 1 in 50,000 people have osteopoikilosis. It can affect all ages and genders, but people assigned male at birth have a slightly higher risk. Although you have the condition from birth, healthcare providers most commonly discover it in people ages 15 to 60.

Where does osteopoikilosis occur?

Osteopoikilosis affects your musculoskeletal system. The condition typically affects the ends of long bones (joints) in your legs and arms. It may also affect the bones in your feet, hands and pelvis.

What causes osteopoikilosis?

Experts believe a change (mutation) to the LEMD3 gene causes osteopoikilosis. This gene makes a protein that aids bone formation. A mutated LEMD3 gene leads to not enough protein and too much bone tissue.

If one of your parents has this altered gene, you have a 50% chance of inheriting it and developing osteopoikilosis. This is an autosomal dominant disease. You also have the same chance of passing the altered gene to your children.

Some people have a spontaneous gene mutation that causes osteopoikilosis. They have no family history of the disease.

Who is at risk for osteopoikilosis?

Osteopoikilosis is more common in people who have another inherited condition called Buschke-Ollendorff syndrome. This connective tissue disease affects the formation of your skin and bones.

Osteopoikilosis may also occur as part of mixed sclerosing bone dysplasia, a condition that causes more than one bone disease. You may have osteopoikilosis along with:

• Melorheostosis (excess bone growth).
• Osteopathia striata or Voorhoeve disease (hard, thick bones).

What are osteopoikilosis symptoms?

Most people with osteopoikilosis don’t have symptoms. You may learn that you have the condition after getting X-rays or imaging scans to check for a different problem like a bone fracture. About 2 in 10 people experience inflammation (swelling) in joints or joint pain similar to osteoarthritis or rheumatoid arthritis.

How is osteopoikilosis diagnosed?

Most people find out they have osteopoikilosis after getting X-rays to check for a broken bone or another problem. It’s an accidental finding.

You may see an orthopedist, a medical doctor who specializes in musculoskeletal conditions. Your provider may order additional imaging tests like an MRI or CT scan to look for other related conditions or to rule out certain problems. A blood test can identify whether you have the gene mutation that causes osteopoikilosis.

How is osteopoikilosis treated?

Most people with osteopoikilosis don’t have symptoms and don’t require treatment. If you have joint pain and inflammation, your healthcare provider may recommend pain relievers like analgesics or nonsteroidal anti-inflammatory drugs (NSAIDs).

Can you prevent osteopoikilosis?

If you inherit the altered gene that causes osteopoikilosis, there isn’t anything you can do to prevent the condition or keep from passing it to future generations.

What is the outlook for someone with osteopoikilosis?

Osteopoikilosis rarely causes problems. The bones of someone who has osteopoikilosis are as strong as someone who doesn’t have the condition. Osteopoikilosis is a benign (noncancerous) condition. It doesn’t increase your risk of having bone cancer or other forms of cancer.

When should I call the doctor?

Call your healthcare provider if you experience:

• Joint pain or inflammation.
• Unexplained bone pain.

What should I ask my provider?

You may want to ask your healthcare provider:

• Do I have other conditions associated with osteopoikilosis?
• Do I need treatment?
• Should I look for signs of complications?
• Should my family get tested for the gene mutation?

A note from Cleveland Clinic

Certain changes to your bones can be cause for concern. But osteopoikilosis is a noncancerous condition that rarely causes problems. Most people are surprised to find out they have it. You inherit a mutated gene from a parent that causes your bones or joints to become extra dense. These dense areas show up as bright spots on an X-ray. If you have the condition, you can pass the altered gene to your children. You should contact your provider if you experience joint pain or inflammation. Pain relievers and anti-inflammatory drugs can help, although most people with osteopoikilosis don’t require treatment.