Osteochondromatosis

Osteochondromatosis (pronounced os·te·o·chon·dro·ma·to·sis) is a medical condition characterized by the development of multiple benign cartilage-capped tumors, known as osteochondromas, on the surface of bones throughout the body. The etymology of the term is derived from the Greek words "osteon" (bone), "chondros" (cartilage), and "osis" (condition).

Symptoms

The symptoms of osteochondromatosis can vary greatly depending on the number and location of the osteochondromas. Common symptoms include bone deformities, pain, and limited range of motion. In rare cases, an osteochondroma may become malignant, leading to a type of bone cancer known as chondrosarcoma.

Causes

Osteochondromatosis is typically caused by a genetic mutation. It can be inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the condition on to each of their children. The condition is associated with mutations in the EXT1 and EXT2 genes.

Diagnosis

Diagnosis of osteochondromatosis is typically made through a combination of physical examination, medical history, and imaging tests such as X-rays or MRI. Genetic testing may also be used to confirm the diagnosis and identify the specific gene mutation.

Treatment

Treatment for osteochondromatosis is typically focused on managing symptoms and preventing complications. This may include pain management, physical therapy, and in some cases, surgical removal of the osteochondromas. Regular monitoring is also important to detect any changes that may suggest a transformation to chondrosarcoma.

Related Terms

External links

Medical encyclopedia article on Osteochondromatosis
Wikipedia's article - Osteochondromatosis

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Osteochondromatosis