It is also referred to as endosseous chondrosis or enchondromatosis. A characteristic feature of the disease is the formation of numerous tumors in the form of chondomas. They develop mainly in the vicinity of the growth cartilage of long bones.
The disease was described in 1890 by the French surgeon Louis Xavier Edouard Leopold Ollier, and the Italian pathologist Angelo Maffuci diagnosed the coexistence of chondroids and hemangiomas in 1881. The incidence of Ollier disease is estimated at 1: 100000.
It is still unknown whether the disease is caused by mutations in single genes or if it is an expression of a combination of germinal and / or somatic mutations. Scholars are not unanimous. Some believe that the disease is related to mutations in the PTHR1 gene encoding the PTH / PTHrP type 1 receptor. Others believe that such a relationship does not exist, and to support their theory, they argue that the disease occurs sporadically, not in families.
The essence of Ollier disease
Ollier disease is when cartilage bumps form inside the bones, the diameter of which can be up to several centimeters. This causes the bones to bloat and therefore to damage or bending. The disease usually presents in the second year of life, most often as thickened cheeks, deformed forearms, valgus knee joints, and uneven limb lengths.
The lesions are arranged asymmetrically and differ in appearance. They can be of other shapes and sizes. The course of the disease and the prognosis for the future are also different. The disease leads to skeletal deformities and uneven growth of long bones. It is also sometimes the cause of malignant bone tumors that can develop on the basis of chondroma.
A condition in which numerous chondroids are accompanied by changes in the type of soft tissue hemangiomas is referred to as Maffucci syndrome.
Multiple growths are often accompanied by a shortage of growth. The multitude of outgrowths is most often found after the age of six. They can appear in any bone that develops on the cartilage. However, they usually occur in tubular bones in the metaphysis area of long bones, especially often in the epiphyses of the knee bones. The bones of the hands and feet are particularly affected.
Diagnosing
The basis of diagnosis in the case of suspected Ollier disease is a clinical examination and standard radiographs. Histological examination is required when a malignant transformation of a tumor is suspected.
On X-rays, the doctor can see numerous gray-white cartilage foci, up to several centimeters in diameter. These foci may be separated by bone partitions or merge with each other. Often the cartilage masses stick to the inner surface of the cortical layer of the bone, causing it to thin. The masses filling the inside of the bones are made of richly cellular hyaline cartilage. Chondrocytes form irregular clusters. In the base essence, there may be calcium salts forming irregular spots and stripes.
Hereditary multiple bone spurs are one of the most common bone development disorders that arise on the basis of cartilage. They are three times more common in men than in women, and they appear in childhood or adolescence. The resulting changes generally do not give any symptoms. It happens, however, that they compress the nerves or cause inflammation of the synovial bursa. Abnormalities are usually found in the long bones of the limbs, but can also appear in the ribs, shoulder blades, bones of the hands and feet. It is characteristic that they appear on both sides, sometimes symmetrically, in the metabolic areas of the bones. Large-scale growths may occur in rapidly growing bones. They are covered with hyaline cartilage 2 to 5 mm thick. Above the cartilage is the periosteum. The surface of the bone outgrowths is made of a thin bone plate that goes into the cortical part of the bone. Under the plaque you can see the weaving of the spongy bone with active marrow or adipose tissue. The hyaline cartilage has grown out and sometimes grows larger. In about 5 percent. Multiple cases of outgrowth develop sarcoma chondrosarcoma, which is a cancer.
Treatment of Ollier disease
Until now, causal treatments for Ollier disease have not been developed. Patients are usually offered only surgical treatment, which consists in the removal of cartilage lesions, and in the case of deformities – corrective osteotomy. The indication for treatment is rapid enlargement of the growth, intensification of pain, disturbances in the axis of the limb, symptoms of compression of the neurovascular bundle.
Tekst: Anna Jarosz