Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas, is a rare genetic disorder characterized by the development of multiple cartilage-capped bony growths called osteochondromas. These growths typically occur on the long bones, such as the arms and legs, but can also develop on the flat bones of the pelvis and shoulder girdle.
Individuals with HME usually inherit the condition from one affected parent, although spontaneous mutations can also occur. HME follows an autosomal dominant pattern of inheritance, which means that a person has a 50% chance of inheriting the condition if one parent is affected.
The osteochondromas associated with HME are benign tumors that grow outwards from the bone surface. They can vary in size and number, with some individuals only having a few while others may have dozens. Although these growths are usually painless, they can cause various complications, such as bone deformities, restricted joint movement, nerve compression, and a higher risk of fractures.
Diagnosis of HME typically involves physical examination, imaging tests such as X-rays or MRI scans, and genetic testing to confirm the presence of mutations in genes associated with the disorder.
While there is no cure for HME, treatment mainly focuses on managing symptoms and preventing complications. Regular monitoring of the growths is necessary to detect any potential malignancy. Surgical removal may be considered if an osteochondroma causes significant pain, functional impairment, or compression of vital structures.
Overall, Hereditary Multiple Exostoses is a genetic condition characterized by the presence of multiple benign bone tumors that can lead to physical limitations and potential complications.
