Things to Know About Enchondromatosis

Things to Know About Enchondromatosis

Enchondromatosis

Enchondromatosis is one of the rare skeletal diseases, which is present in two common disorders that include Maffucci’s syndrome and Ollier’s disease. Individuals who are affected with enchondromas are normally presented with the single enchondromas, which is the cartilage turned into a tumor. Enchondromatosis is the result of multiple affected enchondromas, which form a deformity of the bones that are affected. This is most evident in short as well as tubular bones that include the trunk bones, feet, and the forearm. The other kinds of subtypes include dysspondyloenchondromatosis, Geno chondromatosis, as well as metachondromatosis. All the genetic issues that are related to this condition are referred to as neoplasm.

Ollier’s Disease

This disease is caused due to the multiple enchondromas, which develop in the early childhood. This is normally known to occur in the feet and the hand and as time passes, it starts developing in the complete skeleton. Individuals who have this disorder have the chances of developing various other malignancies, particularly the intracranial tumors. Since the cause behind this disease has not been discovered, the preventive options cannot be provided by the doctors.

Maffucci’s Syndrome

This is one of the non-hereditary disorders, which is known to affect the skin and the bones due to multiple enchondromas. This is known to affect the cartilage as well, along with an individual’s hands and feet bones. They can also develop in the spine, skull, and the ribs. The growth of the bone is normally affected by the enchondromas because they are known to develop at all the tips of each individual bone. This is one of the main reasons as to why the individuals remain short and the muscles remain underdeveloped. According to www.mybiosource.com, this is one of the syndromes, which is known to affect almost 25% of people during their initial years.

Metachondromatosis

This disorder is caused when multiple lesions start affecting the feet, hands, as well as the long bones of an individual. This is one of the hereditary conditions, which is found rarely. For most of the individuals, it starts right in their childhood with a spontaneous regression, which normally does not cause any kind of deformity. Because this case is extremely rare, the gene that is responsible for metachondromatosis has not yet been identified.

Symptoms of enchondromatosis

The symptoms that are associated with enchondromatosis are known to progress in a slow but steady manner. A common symptom is the slow growth rate of the bones that are affected.

Causes

The cause of this disease is not clear because it is not detected whether this is caused as a result of the defect of a single gene or because of the combination of two or more genes.

Diagnosis

Radiology is known to reveal enchondromas. When radiography is not capable of illustrating the calcification sufficiently, magnetic resonance imaging or MRI is used. Some lesions can even require biopsy.

Conclusion

It is true that specific treatments are not available but the corrective surgery of those limbs that are affected can be done. Enchondromatosis can also require numerous surgical interventions.

28 thoughts on “Things to Know About Enchondromatosis

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