Multiple Cartilaginous Exostosis, also known as Multiple Hereditary Exostoses (MHE) or Hereditary Multiple Exostoses (HME), is a rare genetic disorder characterized by the formation of multiple bony growths called exostoses that develop on the surface of bones at the growth plates, also known as the metaphyses. These exostoses are composed of cartilage, bone, and fibrous tissue.
Typically, Multiple Cartilaginous Exostosis is inherited in an autosomal dominant manner, meaning that affected individuals have a 50% chance of passing the condition to each of their children. Mutations in genes involved in the normal development and maintenance of the growing ends of bones, such as the EXT1 or EXT2 genes, are responsible for this disorder.
The exostoses can occur on any bone in the body, but they are most commonly found on the long bones of the arms and legs, as well as the ribs, pelvis, and scapula. The size and number of exostoses can vary greatly among affected individuals. In some cases, the growths may cause pain and restricted movement, especially if they exert pressure on nearby tissues or nerves.
Treatment of Multiple Cartilaginous Exostosis aims to manage symptoms and prevent complications. This may involve surgical removal of exostoses, monitoring for malignant transformation into osteochondromas, physical therapy to improve joint mobility, pain management, and genetic counseling. Regular follow-up with a multidisciplinary medical team is crucial to monitor the growth and development of exostoses and address any associated complications.
