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What is Ollier Disease?

Ollier disease, also known as enchondromatosis, is a disorder that affects the skeletal system. It is characterized by the development of non-cancerous cartilaginous growths (enchondroma) in the bones. These growths mainly develop in the limb bones and can lead to deformities, shortened limbs, and fractures.

Causes of Ollier Disease

Ollier disease is caused due to a spontaneous genetic mutation that affects the production of a specific enzyme in the body. In some people, this mutation occurs early before birth during fetal development and manifests as multiple growths throughout the body (multiple enchondromas) whereas in others the mutation occurs later in life and is present as a single enchondroma or growth.

Symptoms of Ollier Disease

The signs and symptoms of Ollier Disease may present at birth but usually manifest by age 10. The enchondroma often develops at the end of the bones where normal growth occurs preventing further growth. The common symptoms include:

  • Short stature
  • Bone deformity
  • Visible projections over the bone
  • Pain due to irritation in the tendon
  • Development of fragile bones

Diagnosis of Ollier Disease

Diagnosis is mainly carried out during childhood by clinical examination and diagnostic studies that include:

  • CT scan: This is a study that uses a circulating x-ray machine to develop images of the bones, blood vessels, and tissues.
  • MRI scan: This study uses a strong magnetic field and radio waves to create images of hard and soft tissue structures inside the body.
  • X-rays: This study uses radio waves to detect the formation of the enchondroma and other deformities in your bones.
  • Biopsy: In this study, a sample is taken from the suspected lesion to determine its characteristic features.

Treatment for Ollier Disease

There is no cure for Ollier disease as it is caused by a genetic mutation. Treatment is mainly done if the enchondroma causes any deformity or impairment of function. The focus of treatment is on strengthening and stabilizing the damaged or weakened bones. Treatment options include surgery to remove the abnormal growths, stabilization of the bone with metal plates, bone grafts, and screws; joint replacement in cases of severe bone and joint damage, and physical therapy to reduce pain caused by enchondroma and to improve mobility and function.

Prevention for Ollier Disease

There are no preventive measures as the condition can be detected only after the formation of enchondroma.