What is Enchondromatosis?

Enchondromatosis is a rare skeletal disease present in two disorders known as ollier’s disease and maffiucci’s syndrome. Individuals affected with enchondromas are usually presented with single enchondromas, a benign cartilage forming tumor. Enchondromatosis is the result of individuals affected with multiple enchondromas, forming severe deformity of the affected bones. This is evident in the short and tubular bones such as feet, forearm and trunk bones. Some of the other subtypes are genochondromatosis, metachondromatosis and dysspondyloenchondromatosis. The genetic abnormalities of this condition are considered to be related to neoplasms.

Ollier Disease

This is the result of multiple enchondromas that is prone to develop in early childhood. The lesion usually occurs in the hands, feet and develops into the entire skeleton during the later stages. Individuals with this disorder are at high risk of developing other malignancies, particularly intracranial tumors. The prevalence of this disease is 1/100,000. The cause of this disease is not known and hence preventive options are not known.

Maffiucci’s Syndrome

This is a nonhereditary disorder affecting the bones and skins as the result of benign multiple enchondromas. This affects the cartilage along with the bones of feet and hands but also prone to develop in the skull, ribs and spine. As the normal bone growth is affected with enchondromas, which develops at the tips of the bones, hence individuals tend to cease growth in early adulthood making them short in stature with underdeveloped muscles. This syndrome affects 25% of the individuals during their first year, 45% before the age of 6 and 78% before puberty. However, affected individuals have a higher risk of developing a malignancy. There are only fewer than 200 cases recorded globally.    


This is the development of multiple lesions affecting the long bones, hands and feet. This disorder is a hereditary condition which is rarely found. This occurs in childhood with the spontaneous regression that does not tend to cause any deformities. Due to the rare cases, the gene responsible for this condition has not been identified.


This is a very rare disease that develops multiple bone lesions called chondromas in the long tubular bones. The lesions are found in the thigh, upper arm and collar bone. Two subtypes of this condition are present which are described as type I and type II. The lesions of genochondromatosis do not develop any bone deformities.


The symptoms of enchondromatosis tend to progress slowly with swelling and slow growth of the affected bones. In the severe cases, the dumbbell appearance of the long bone is evident.


It is unclear if the cause of this disorder is the single gene defect or due to the combinations of mutations.

Diagnosis and Treatment

Generally, radiography tends to reveal the enchondromas. The larger lesions of this disorder reveal cartilage calcification. When radiography does not sufficiently illustrate the calcification, magnetic resonance imaging (MRI) and computed tomography (CT) scanning may be necessary. Some lesion may require biopsy.

There are no specific treatments available except for corrective surgery of the affected limbs. Enchondromatosis may require multiple surgical interventions.