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Enchondromatosis, also known as Ollier’s disease, is a rare condition where benign bone tumors, called enchondromas, are found throughout the body. Surgery is used to treat complications, and regular screening is recommended to detect malignant changes early.
An enchondroma is a benign or non-cancerous bone tumor, and enchondromatosis, also known as Ollier’s disease, is a rare condition in which many of these tumors are found throughout the body. Enchondromas grow from the cartilage within the bones, and the tumors can be painful, particularly if they become malignant or cancerous, which can occasionally happen. Sometimes a tumor formed by blood vessels, called a hemangioma, occurs in varying numbers with enchondromas and this condition is known as Maffucci disease. There are no drugs available for enchondromatosis and surgery is used if complications arise. Ollier’s disease is named after Louis Ollier, the French surgeon who discovered the disease in the 19th century.
Enchondromatosis often appears in the first years of life and is more common in boys than in girls. While the condition itself isn’t life-threatening, it can be painful, can lead to bone fractures, and there’s a chance that some tumors could become malignant, requiring surgical removal. Surgery may also be needed if limbs are broken or deformed due to the presence of the tumors. Enchondromas that enlarge into the bone can cause one limb to shorten relative to the other or bend abnormally. Deformities of the knees, especially those leading to bowing of the legs, may occur, although knee strikes may also be seen.
Ollier enchondromatosis typically has an asymmetrical distribution of tumors, but a condition with a symmetrical pattern of enchondromas also exists, known as generalized enchondromatosis. In Ollier disease, tumors occur mainly within the bones of the feet and hands and in the long bones of the arms and legs. The disease is diagnosed using a combination of X-rays and other scans such as MRI or MRI scans. A biopsy, or small sample, of an enchondroma may be taken and examined under a microscope, showing characteristic nodules of cartilage contained within the bone.
If an enchondroma becomes malignant, it most often turns into a type of cancerous tumor known as a chondrosarcoma. About one-third of people with enchondromatosis will experience at least one enchondroma that changes to become malignant. In people with Maffucci disease, the proportion is much higher. Regular screening is recommended to detect malignant changes early, but, perhaps because enchondromatosis is so rare, there is currently no universal agreement on how often it should occur and which methods would be best to use. Neither Ollier’s disease nor Maffucci’s disease is believed to be hereditary.
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