An Overview of Ollier Disease

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Ollier disease is a condition that affects the skeletal system of the body. People who have Ollier disease develop multiple benign cartilage tumors called enchondromas. These benign growths are noncancerous, but they can occur throughout the skeleton. They are most commonly found in the limbs, specifically the hands and feet, but can also occur in the skull, ribs, and vertebra.

An elderly man talking to his doctor about some recent test results.
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Tumors can either be benign (noncancerous) or malignant (cancerous). Cancerous tumors are ones that spread throughout the body. Benign growths, such as these enchondromas, do not spread from one location to another. However, in people with Ollier disease, the enchondromas appear in multiple locations throughout the body. In addition, these cartilage growths are benign when they begin, but they can become cancerous (malignant) over time. If they do become cancerous, they are called chondrosarcomas.

Ollier disease is a condition that affects the skeletal system, the framework for our body. Conditions that alter the skeletal system can have effects on our appearance and the way our body moves.

People with Ollier disease may notice symptoms that affect the appearance and movement of their bodies. However, Ollier disease does not affect intelligence or lifespan. This is a rare condition that occurs in approximately 1 out of every 100,000 people. Other names that Ollier disease may be called include multiple enchondromatosis or dyschondroplasia.


The symptoms of Ollier disease occur as a result of benign growths within the bone. The growth that occurs begins as cartilage cells that expand in an unexpected location. The growth can occur inside of the bone, or project from the bone.

The most common location for enchondromas to occur is within the hands and the feet. In many cases, enchondromas do not cause any symptoms, and may not even become noticed. However, in Ollier disease, 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 a result of the deformity of the bone.

As the enchondromas grow in size, they can cause irregular projections to form along the bone. These are most noticeable in the hands and feet, but can also occur elsewhere in the skeleton. 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 occur. 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 to the bone, leading to a fracture of the bone. This type of fracture is called a pathologic fracture and occurs when a tumor causes significant weakening to the bone. Pathologic fractures can sometimes occur with minimal trauma as a result of the frailty of the bone where the tumor has eroded the normal bone structure.

Lastly, pain can be a sign of the development of the malignant transformation of the tumor. This occurs when a tumor that starts as a benign enchondroma transforms into malignant chondrosarcoma. People with Ollier disease may need their tumors monitored to ensure there is no sign of malignant transformation.

A condition related to Ollier disease, called Maffucci syndrome, also occurs with multiple enchondromas located throughout the skeletal system. The difference between Ollier disease and Maffucci syndrome is that in the case of Maffucci syndrome, there are also abnormalities of the blood vessels under the skin, called hemangiomas. These hemangiomas cause red or purplish growths under the skin.


Ollier disease occurs as a result of a spontaneous genetic mutation. This condition is not inherited or spread within families; rather, the mutation occurs spontaneously.

In people with Ollier disease, the mutation occurs very early in development, before birth, and therefore is found throughout the body, rather than someone who has a single enchondroma where the mutation occurred later in life.

Because the genetic mutation occurs during fetal development, the abnormal mutation is passed to cells throughout the body. If this mutation occurred later in life, the condition of multiple enchondromas would not occur. However, because it occurs early in development, the enchondromas can be seen in multiple locations.

The mutation that occurs in people with Ollier disease is to an enzyme called IDH1 or IDH2. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutarate. There are genetic tests they can be performed to detect these mutations, although the clinical significance of these test is yet unclear. The test results do not help to guide treatment nor do they provide prognostic information.


The diagnosis of Ollier disease is typically made during childhood. Symptoms are generally not apparent at birth, although occasionally a skeletal abnormality will be noted early in childhood.

More typically, around the age of 5 years old, the bony projections of the multiple enchondromas are noted. The enchondromas can worsen over the course of childhood development. Typically, when the skeleton stops growing in early adulthood, the symptoms of Ollier disease will stabilize.

An enchondroma is generally visible on an X-ray. The X-ray is a useful test at detecting abnormal bone and cartilage growths and is also useful to assess the degree of weakening of the bone.

An MRI test is sometimes obtained to get a better look at a specific enchondroma. Sometimes the MRI test can give an indication of the likelihood of malignant transformation of an enchondroma into chondrosarcoma.

Other tests can be obtained, particularly if there is a concern for the degree of bone weakening as a result of the tumors. These tests might include CAT scans and bone scans.


There is no treatment to prevent or stop Ollier disease. This is a genetic mutation that is only detected after the formation of the enchondromas. The treatment of Ollier disease is to address problematic enchondromas.

Sometimes treatment occurs as a result of a deformity of the skeleton, other times because of the weakening of the bone. If a deformity occurs that is causing the abnormal function of a joint, an enchondroma may be removed. If an enchondroma is causing weakening of the bone that may lead to pathologic fracture, the enchondroma may also be removed in that situation.

The other reason for treatment to occur is if there is a concern about the development of malignant transformation of one of the enchondromas into chondrosarcoma. This can be difficult to detect, and knowing when an enchondroma is becoming more aggressive is sometimes not clear. Worsening pain and increasing size of the enchondroma are signs that may be consistent with malignant transformation. In these cases, the enchondroma may be removed.

Surgical treatment to remove an enchondroma will depend on the size in the location of the specific tumor that is being treated. Sometimes the surgical procedure is as simple as removing the abnormal cartilage tumor, other times the treatment will be more significant.

If the removal of the abnormal area of bone and cartilage is going to weaken the bone, your surgeon would also stabilize the remaining bone. Again, there are many ways to stabilize the bone, including plates and screws, metal rods, and even bone graft to stimulate normal bone growth in the area.

The specific surgical procedure to address your condition will likely vary depending on the size and location of the tumor. Following the removal of an enchondroma, there is a possibility that the tumor can recur. For that reason, your surgeon may opt to provide additional treatment at the time of surgery to attempt to eradicate all of the abnormal cartilage cells.


People with Ollier disease are sometimes limited as a result of skeletal deformities. This may cause pain with certain activities, limitations in movement of the skeletal system, and a slight weakening of the muscles.

However, most people with Ollier disease live very normal lives, and while they require monitoring to ensure no signs of malignant transformation of their enchondromas, there should be no major limitations. It is important to note that people with Ollier disease have a normal lifespan.

People with Ollier disease do not need to worry about passing the condition down to offspring. Because this occurs as a spontaneous genetic mutation, it is not inherited through families.

A Word From Verywell

Ollier disease is a condition that occurs as a result of a mutation during fetal development leading to the formation of multiple benign cartilage growths within the bone. While these growths can cause some problems with the formation of the skeletal system and may lead to limitations in certain movements and function, for the most part, people with Ollier disease can lead very normal lives.

The major concerns in people who have Ollier disease are the possibility of bone weakening leading to pathologic fracture, and the development of malignant transformation of the enchondroma into chondrosarcoma. For these reasons, people with Ollier disease require regular monitoring of their enchondromas, but this should not interfere with a normal life.

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