Osteochondromatosis

Osteochondromatosis is a condition that is characterized by the development of multiple cartilage-covered bone growths, known as osteochondroma. These growths can occur in any bone that develops from cartilage, but they most commonly affect the long bones in the arms and legs.

Symptoms

The symptoms of osteochondromatosis can vary greatly depending on the number and location of the osteochondromas. Some people with this condition may have no symptoms, while others may experience pain, numbness, or tingling if an osteochondroma presses on a nerve or blood vessel. In some cases, the growths can cause deformities or limit the range of motion in the affected joints.

Causes

Osteochondromatosis is usually caused by a mutation in the EXT1 or EXT2 gene. These genes provide instructions for producing proteins that are involved in the formation of heparan sulfate, a molecule that plays a crucial role in the development and maintenance of cartilage and bone. Mutations in these genes disrupt the production of heparan sulfate, leading to the formation of osteochondromas.

Diagnosis

The diagnosis of osteochondromatosis is typically based on a physical examination and imaging studies, such as X-rays or magnetic resonance imaging (MRI). In some cases, a biopsy of an osteochondroma may be performed to confirm the diagnosis.

Treatment

The treatment of osteochondromatosis primarily involves managing the symptoms and complications of the condition. This may include pain management, physical therapy, and in some cases, surgery to remove large or symptomatic osteochondromas.

See also

• Osteochondroma
• Bone tumor
• Cartilage

Osteochondromatosis Resources
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