Ollier's Disease
Ollier's disease is a rare, non-hereditary, skeletal disorder which is characterized by the formation of multiple enchondromas which is why it's also known as ENCHONDROMATOSIS. Enchondromas are intraosseous, benign cartilaginous growths that may lead to skeletal deformities and even fractures. The underlying cause isn't exactly known but it may be due to somatic mutations in the PTH1R or IDH1 or IDH2 gene. The clinical features are apparent within the first decade of life. The enchondromas primarily develop in the limb bones usually of the hand and feet. Once developed, the enchondromas appear as multiple swellings and bony out growths on the fingers, toes etc. There's asymmetric shortening of the affected limb with limping. There may be pain during periods of rapid growth but if pain occurs when the child is older then it raises the suspicion of malignant transformation. The treatment is usually conservative with the aim of relieving pain and allowing the patient to walk and perform other activities normally. Usually physical therapy helps but sometimes surgery or joint replacement may be performed if needed.
