Cartilaginous exotosis, also known as chrondodystrophy, is a disease characterized by the neoplastic proliferation of cells in the cartilage. This over-proliferation of cells affects bone growth and joint function. The long bones (bones in the legs and arms) are affected more negatively than other bone structures throughout the body.
Cartilaginous Exostosis Risk Factors
The two most common risk factors are gender and hereditary transmission:
Gender: Males are diagnosed with cartilaginous exotosis more than women.
Hereditary Transmission: The disease is distinctly hereditary. Research indicates that both affected males and females may transmit the disease. Furthermore, research also indicates that females can carry the genetic properties necessary for disease transmission without actually developing the disease themselves. There is no evidence suggesting that unaffected males can transmit chrondodystrophy to their offspring.
Cartilaginous Exostosis Symptoms and Features
The various features of cartilaginous exostosis manifest themselves under the following umbrella of symptoms:
- Reduction of skeletal growth (dwarfism and/or short limbs)
- Bone deformities
- Shortened stature
- Premature osteoarthrosis (a type of arthritis typically associated age-related bone and joint wear)
- Restricted joint motion
- The compression of peripheral nerves (nerves that connect the central nervous system [brain and spinal cord] to the limbs and organs).
Cartilaginous Exostosis Diagnosis
If two or more members of a person’s family have been diagnosed with cartilaginous exostosis, then that individual’s DNA is tested for the genes associated with the onset of the disease. These genes include EXT1 and EXT2. Analyzing the entire coding regions of EXT1 and EXT2 in a person’s DNA is a key feature in the diagnosis of the disease. Such tests confirm 70 to 90% of all cartilaginous exostosis cases. These confirmations are typically made before a person reaches three years of age. When an early-life confirmation is not made, then the disease is usually detected when the aforementioned symptoms and abnormalities become sharply evident. In these cases, x-rays, standard physical exams, as well as various DNA tests are employed to diagnose the disease.
Cartilaginous Exostosis Treatment
When painful lesions are present without extensive bone abnormalities, simple surgical excision is usually performed. These excisions may slow the development of additional growths and abnormalities.
Typically, the cartilage cap and the perichondrium (dense connective tissue around the cartilage) are also excised in such cases to prevent lesion recurrence. Most other deformities are treated by excising the extostoses (neoplastic cartilage growth).
Such excisions can be curative, but recurrence is frequent. In some cases, growth plate arrests are implemented in order to balance the size and length of affected limbs. For instance, if a person is affected with a shortened leg, resulting from an exostosis, the other leg will often be stunted to maintain similar leg length and size.
Cartilaginous Exostosis Prognosis
This disease does not carry a deadly prognosis. However, the onset of cartilaginous exostosis can lead to serious health complications for the patient. Skeletal abnormalities, joint restriction, dwarfism, and the other symptoms of the disease may result in an immobility and/or a person’s inability to perform normal mechanical tasks. Furthermore, this disease necessitates persistent clinical observation because of its tendency to recur.