What Is Ollier Disease?

Ollier disease affects the skeletal system. People with this condition develop multiple benign or non-cancerous cartilage tumors called enchondromas.

These benign growths can occur throughout the skeleton. They are most commonly found in the limbs, specifically the hands and feet. They can also occur in the skull, ribs, and vertebra.

This article looks at Ollier disease, its symptoms, causes, and diagnosis. It also discusses available treatments and offers tips on how to cope if you have this condition.

Symptoms of Ollier Disease

Ollier disease affects the skeletal system, the framework for the body. Conditions that alter the skeletal system can affect the appearance and the way the body moves. Ollier disease does not affect intelligence or lifespan.

This is a rare condition that occurs in approximately 1 out of every 100,000 people. It has other names, including:

• Multiple enchondromatosis
• Dyschondroplasia

Ollier disease causes benign growths within the bone called enchondromas. These growths are what cause the symptoms of the disease.

The growths begin with the abnormal growth of cartilage cells. Growths can occur inside the bone, or project from the bone. The most common location for an enchondroma is within the hands and feet.

Individual enchondromas can occur in people without Ollier disease. In many cases, they do not cause symptoms and may not even be noticed. In Ollier disease, however, the enchondromas are typically noticeable and can become significantly deforming to the bone. For this reason, people with Ollier disease often have a short stature.

As the enchondromas grow, they can cause irregular projections to form along the bone. These are most noticeable in the hands and feet. They can occur elsewhere in the skeleton, however. Often, one side of the body is disproportionately affected.

The specific age of onset, size, number of tumors, and location of the enchondromas can vary widely among people with Ollier disease.

Pain is not a common symptom of a benign enchondroma, but it can happen. Pain sometimes occurs when an enchondroma causes irritation to a tendon, nerve, or other structure surrounding the skeleton.

Pain can also occur if an enchondroma causes weakening of the bone. This can lead to a fracture. This type of fracture is called a pathologic fracture. Pathologic fractures can sometimes occur with minimal trauma simply because the bone becomes frail where the tumor has eroded its normal structure.

Maffucci syndrome is another condition that causes multiple enchondromas throughout the skeletal system. It is related to Ollier disease, but unlike Ollier disease, it is also associated with abnormalities of the blood vessels under the skin. These are called hemangiomas. They appear as red or purplish growths under the skin.

Over time, enchondromas may become malignant, or cancerous. When they do, they are called chondrosarcomas. Pain can be a sign of the malignant transformation of the tumor. People with Ollier disease may need their tumors monitored to ensure there is no sign of malignant transformation.

What Causes Ollier Disease?

Ollier disease is a result of a spontaneous genetic mutation. This condition is not inherited or spread within families.

The Ollier disease mutation occurs very early in development, before birth. Because it happens during fetal development, the mutation is passed to cells throughout the body. This differs from the mutations associated with single enchondromas, which occur later in life.

The Ollier disease mutation is associated with an enzyme called IDH1 or IDH2. These enzymes convert a compound called isocitrate into another compound called 2-ketoglutarate, which plays an important role in the body's metabolism. In people with Ollier disease, the affected enzyme takes on an abnormal function, though exactly how it causes symptoms is not known.

Genetic tests can detect these mutations, but the results don't help guide treatment or provide information about prognosis.

Diagnosing Ollier Disease

Ollier disease is usually diagnosed during childhood. Symptoms are not typically apparent at birth, though skeletal abnormalities may sometimes be noted early in childhood.

More often, around the age of 5, the bony projections start to become obvious. The enchondromas can worsen over the course of childhood. When the skeleton stops growing in early adulthood, symptoms will usually stabilize.

An enchondroma is often visible on an X-ray. The X-ray can detect abnormal bone and cartilage growths and can also help assess any weakening of the bone.

An MRI test can help a healthcare provider get a better look at an individual enchondroma. Sometimes the MRI can help assess the likelihood that an enchondroma will transform into a malignant chondrosarcoma.

Other tests can be used to assess how much the bone might have weakened. These tests may include CAT scans and bone scans.

Treatment

There is no treatment to prevent or halt Ollier disease. The goal of treatment is to address problematic enchondromas.

Sometimes treatment addresses a deformity of the skeleton. Other times it is necessary because of weakening of the bone. If a deformity causes the abnormal function of a joint, for example, an enchondroma may be removed. An enchondroma might also be removed because it has weakened the bone and there is a risk of pathologic fracture.

Enchondromas may also be removed if there is concern they may become malignant. This can be hard to detect, and it's not always clear that an enchondroma is becoming more aggressive. Signs may include worsening pain and an enchondroma that is increasing in size.

Surgical treatment depends on the size and location of the specific tumor. Sometimes the procedure is as simple as removing the tumor. Other times the treatment will be more significant.

If removing the tumor will weaken the bone, the remaining bone may need to be stabilized. This can be done in a few different ways, including:

• Plates and screws
• Metal rods
• Bone graft, which can help stimulate normal bone growth in the area

It is possible for an enchondroma to recur after it's been removed. For that reason, the surgeon may also attempt to eradicate all the abnormal cartilage cells.

Coping

Ollier disease may cause pain with certain activities, limitations in movement of the skeletal system, and a slight weakening of the muscles. People with the condition need monitoring for signs of malignant transformation. Other than that, most people with Ollier disease live very normal lives and have a normal lifespan. Most don't have any major limitations.

Because Ollier disease is a spontaneous mutation, it is not inherited. People with the condition don't have to worry about passing it on to their children.

Summary

People with Ollier disease develop multiple benign tumors that can occur throughout the skeleton. They are most common on the hands and feet. They can become malignant over time.

Ollier disease is caused by a spontaneous mutation. It is not passed down through families. The condition is usually diagnosed in childhood and tends to stabilize in early adulthood.

Tumors can be removed surgically if they are causing mobility problems, a weakening of the bone, or if they become malignant.

A Word From Verywell

Enchondromas can cause problems with the formation of the skeletal system and may lead to limitations in certain movements and function. For the most part, though, people with Ollier disease can lead very normal lives.

The major concerns in people who have Ollier disease are the possibilities of pathologic fracture and malignant transformation. For these reasons, people with Ollier disease require regular monitoring of their enchondromas. Beyond that, most people with Ollier disease can lead a normal life.