Multiple cartilaginous exostoses, also known as hereditary multiple exostoses (HME), is a rare genetic disorder characterized by the presence of multiple benign bony protrusions called exostoses. These exostoses typically develop on the long bones, such as the femur and tibia, as well as on the flat bones, including the scapula and pelvis.
The exostoses are formed due to abnormal cartilage growth near the growth plate, which subsequently transforms into bone tissue. These outgrowths can vary in size and number, with some individuals having only a few while others may experience numerous exostoses.
The precise cause of multiple cartilaginous exostoses is yet to be fully understood, though scientists have identified several genes associated with this condition. Inheritance is usually autosomal dominant, meaning that a person with HME has a 50% chance of passing the mutated gene to their children.
Symptoms of multiple cartilaginous exostoses may include pain, restricted joint movement, limb discrepancy, deformities, and nerve compression due to the mass effect of the exostoses. Additionally, individuals affected by HME may have an increased risk of developing other conditions such as osteochondroma, which is the transformation of an exostosis into a malignant tumor.
Treatment for multiple cartilaginous exostoses aims to manage symptoms and may include surgical removal of exostoses causing pain or complications, physical therapy to improve range of motion, and regular monitoring to identify any potential malignant transformations.
In conclusion, multiple cartilaginous exostoses is a genetic disorder characterized by the development of multiple benign bony protrusions called exostoses on various bones in the body.
