Ollier's disease is characterized by multiple benign cartilage tumors called enchondromas. The disease is usually diagnosed during childhood because the lesions typically form near the growth plate cartilage and can affect bone development. Enchondromas commonly affect bones in the feet, but can also form in the bones of the thigh and upper arm. In some cases, enchondromas may become malignant. Malignant cartilage tumors are called chondrosarcomas.
Causes of Ollier's disease
It is not yet clear whether the disease is caused by a single gene defect or a combination of mutations; however, the irregular distribution of lesions suggests that the disorder is the result of mosaicism, or an error in cell division that occurs before birth.
Ollier's disease symptoms
The main symptom of Ollier's disease is bone deformity. However, individuals with Ollier's disease may have:
- A bony mass on the toe.
- Asymmetric growth.
- Enlarged toes.
- Pain in the area affected by an enchondromas.
- Swollen, aching limbs.
Since enchondromas cause the outer layer of bone to become thin and fragile, individuals with Ollier's disease are more susceptible to bone fractures. In fact, Ollier's disease is typically diagnosed when enchondromas show up in an X-ray. When an enchondroma is present, the X-ray will typically show a dark hole in the bone that has calcification or white spots.
It is typical for swelling to occur due to an enchondroma, but pain may be a cause for concern. While it may be normal for pain to occur with activity, pain that occurs when one is at rest or pain that does not go away may be a sign of malignancy and should be investigated.
Treatment of Ollier's disease
In most cases, enchondromas aren't painful or cancerous and don't require treatment. If they become malignant, cause a deformity, or weaken the bone enough to cause a fracture, surgery can be performed to remove them. During surgery, the region is removed from the bone and a filling material such as bone graft is used to fill the cavity.