Solitary osteocartilaginous exostosis
Solitary osteocartilaginous exostosis --> osteochondroma
(Science: oncology, tumour) A benign cartilaginous neoplasm that consists of a pedicle of normal bone with a rim of proliferative cartilage cells, often occurs near the ends of long bones, multiple osteochondromas are inherited and referred to as hereditary multiple exostoses.
MHE / mo / HME is a genetic bone disorder in which benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones, growth plates of long bones or from the surface of flat bones throughout the body.
These exostoses / Osteochondroma's can cause numerous problems, including: compression of peripheral nerves or blood vessels; irritation of tendons and muscles resulting in pain and loss of motion; skeletal deformity; short stature;limb length discrepancy; chronic pain and fatigue; mobility issues; early onset arthritis; and an increased risk of developing chondro- sarcoma, reported risk of 2%-5% over life time.
It is not uncommon for MHE / mo / HME patients to undergo numerous surgical procedures throughout their lives to remove painful or deforming exostoses / Osteochondroma's and or to correct limb length discrepancies and improve range of motion.
surgery, physical therapy and pain management are currently the only options available to MHE / mo / HME patients, but their success varies from patient to patient and many struggle with pain, fatigue and mobility problems throughout their lives.
Most individuals with MHE / mo / HME have a parent who also has the condition, however, approximately 10% -20% of individuals with MHE / mo / HME have the condition as a result of a spontaneous Mutation are thus the first person in their family to be affected.
Approximately 60 to 70% are located EXT1 gene and 20 to 30% are located EXT2 mutation. Genetic testing, Prenatal diagnosis and Preimplantion genetic diagnosis "PDG" are available. Please check the genetics section for more detailed information.
For more detailed information http://www.mheresearchfoundation.org