Osteochondromatosis causes bone tumors to develop, often due to a genetic predisposition. Symptoms include pain, deformity, and limited range of motion. Diagnosis is made through imaging tests and physical exams. Treatment may involve surgery, especially if the tumor is malignant, and benign tumors may not require surgery. Synovial osteochondromatosis grows in joint linings and can be removed if causing discomfort.
Osteochondromatosis is a medical condition that causes multiple osteochondromas, or bone tumors, to develop on a patient’s bones. This disorder goes by several names including multiple osteochondromatosis, multiple hereditary exostosis, and multiple osteocartilaginous exostosis. Most patients with osteochondromatosis inherit a genetic predisposition that can increase the likelihood of this disease developing. Some individuals have contracted this medical condition randomly with no apparent genetic risk factors. Men and people under 30 tend to have a higher risk of developing this disorder.
People with osteochondromatosis may notice pain at the location of a bone tumor and visible deformity. The bones near osteochondromas typically grow abnormally. Men and women with this condition can experience limited range of motion and even lock in an affected joint.
Osteochondromas located near a nerve can cause tingling or numbness. In some cases, reduced blood flow can occur if a bone tumor presses against a blood vessel and causes a lower heart rate. The skin over an arm or leg may change color if osteochondromatosis affects blood flow in a limb.
A doctor can use X-ray imaging tests to identify a bone tumor. Computed tomography (CT) scans often reveal aggressive tumor growth and metastases, or spread of tumors, to other parts of the body. Doctors can also use a magnetic resonance imaging (MRI) test, patient history, and a thorough physical exam to diagnose osteochondromatosis. In some cases, a patient with bone cancer may undergo a biopsy in which a doctor removes a tissue sample from the tumor and a laboratory tests for the cancer.
Benign osteochondromas may not require surgery, especially if they don’t cause severe pain or other symptoms. Some patients with deformities, such as crooked knees, may undergo surgery to straighten the bones. A surgeon can completely remove a bone along with its tumor in cases where osteochondromatosis is severe. Surgically removed limbs typically require reconstructive surgery or a prosthesis.
Patients with osteochondromas that grow after puberty often have an increased likelihood of the bone tumor becoming malignant. A large cartilaginous cap on a bone tumor may indicate that the tumor is turning malignant. In some cases, pain at the site of the tumor can be a sign that the cancer is developing.
Synovial osteochromondromatosis, or synovial chondromatosis, grows in the lining of a joint, such as a hip, elbow, or knee joint. These bone tumors typically separate from the joint lining and move freely within a patient’s joint. Tumors of this type are usually benign and rarely turn into cancer. Doctors can remove bone tumors if the tumors are causing discomfort.
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