What causes Ollier disease?
In most people with Ollier disease, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively.
Can Ollier disease be cured?
Treatment. 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.
How rare is Ollier’s disease?
Affected Populations The estimated prevalence of the disease is 1/100,000. Ollier disease is a very rare disorder that affects males and females in equal numbers. Symptoms are most often observed in children but can occur in adolescents and adults. This disorder can affect all races.
What is the treatment for Enchondroma?
Curettage is the surgical procedure most commonly used to treat enchondromas. In curettage, the tumor is scraped out of the bone. Once enchondromas are removed, most will not return. If a tumor has caused your bone to fracture, your doctor will usually allow the fracture to heal before treating the tumor.
What does Chondroma mean?
Listen to pronunciation. (kon-DROH-muh) A rare, slow-growing tumor that is made up of cartilage and forms on or in bones or soft tissue. It is not cancer.
How do you test for Maffucci syndrome?
The diagnosis of Maffucci syndrome is made by a detailed history, thorough physical examination and radiologic assessment. Surgical removal and microscopic study of the skeletal lesions confirm the presence of enchondroma and distinguish the tumor from chondrosarcoma.
Who discovered Ollier’s disease?
Eponyms. The disorder is named after French surgeon Louis Léopold Ollier. Late in the 19th century, Ollier was one of the first to distinguish between enchondromatosis and this condition by highlighting the pattern of abnormal and asymmetrical enchondromas distributions in Ollier disease.
Is enchondroma serious?
Enchondromas can grow and compress healthy bone tissue. However, most enchondromas are benign. Benign cartilage tumors usually don’t spread or destroy bone tissue. They’re rarely life-threatening.