Hereditary Multiple Exostosis (HME), also known as Multiple Hereditary Exostoses, is a rare, inherited genetic disorder characterized by the formation of multiple bony outgrowths called osteochondromas/juxtacortical chondromas. These growths typically develop near the growing ends of the long bones, such as the arms and legs, and can also affect the flat bones of the chest and pelvis.
The primary cause of the condition is a genetic mutation that leads to abnormal growth plate development. As a result, the bones grow in an irregular manner, forming these benign bone tumors. HME is typically inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the mutation to their offspring.
Individuals with HME may exhibit various symptoms, including skeletal deformities, short stature, unequal limb lengths, joint pain, discomfort or restricted movements, and nerve compression due to the tumors. The severity and range of symptoms can differ among affected individuals, even within the same family.
While there is currently no cure for HME, treatment options aim to manage its symptoms and complications. Regular monitoring, surgical interventions to remove symptomatic osteochondromas, physical therapy, and orthopedic devices may be recommended to improve the quality of life by relieving pain, improving range of motion, and mitigating the risk of complications such as fractures or nerve compression.
Overall, Hereditary Multiple Exostosis is a rare genetic disorder characterized by the formation of multiple benign bone tumors that can lead to skeletal deformities and various complications.
