Ollier disease is a rare skeletal disorder characterized by abnormal bone development, a condition known as skeletal dysplasia. Although it may have a congenital origin, the symptoms typically manifest in early childhood.

Overview

This disorder, primarily caused by genetic mutations, is not inherited but rather results from somatic mutations.

The hallmark of Ollier disease is the development of growths within the bones, predominantly in the hands and feet. However, these anomalies can also affect the skull, ribs, and spinal bones, potentially leading to severe bone deformities, limb shortening, and an increased susceptibility to fractures.

Symptoms and Complications

Ollier disease typically emerges between the ages of two to four, characterized by slower growth in one limb. While the condition most commonly affects the hands and feet, it can also extend to involve the pelvis, ribs, breastbone, and skull bones, occasionally resulting in the shortening and bowing of long bones.

Frequent fractures occur due to the impact of Ollier Disease on bone formation. Additionally, individuals with this condition may face rare complications such as intra-axial brain tumors, which develop within brain tissue, and juvenile granulosa cell tumors, a rare form of ovarian cancer.

While the enchondromas initially manifest as benign growths, there is a risk of them becoming cancerous. This transformation can lead to the development of bone cancers, especially within the skull. Individuals with Ollier disease also have an elevated susceptibility to other types of cancer, such as ovarian or liver cancer.

Prevalence and Underlying Causes

Ollier disease is a rare condition, with an incidence rate of one in one hundred thousand within the population. Although the precise etiology of this disease remains unknown, certain mutations in genes like IDH1, IDH2, and PTHR1 have been associated with Ollier disease. These mutations occur somatically, affecting only a portion of the individual's cells rather than being universally present.

Diagnosis and Monitoring

The diagnosis of Ollier disease typically involves a combination of techniques, including bone biopsy, x-rays, magnetic resonance imaging (MRI), and CT scans for capturing internal body images. Individuals affected by this condition are advised to undergo regular medical assessments to detect any malignant changes in their bones and joints.

Treatment Approaches

While symptomatic treatment is essential, surgical interventions have proven effective in correcting limb deformities resulting from Ollier disease. In severe cases, artificial joint replacements may be required. Fortunately, fractures tend to heal without complications. A supportive approach, which may encompass medical, social, and vocational services, can greatly benefit children living with Ollier disease.