Definition
Chondromatosis is defined as the occurrence or formation of several to many chondromes in the bones or joints. The chondrome is a benign bone tumor characterized by the formation of mature cartilage tissue. The degeneration risk of chondromas is low, which is why the risk of malignant degeneration is rarely associated with chondromatosis. Chondromatosis can be divided into different subgroups in which the chondromes show a special pattern of appearance.
Causes
The cause of chondromatosis cannot be explained exactly. The origin of the chondromas on a histological level can. They are lumps in the bone of different sizes.
Viewed through the microscope, a structure typical of cartilage tissue appears. This is why chondromas and chondromatosis get their name: from the chondrocytes (cartilage cells). Chondrocytes embedded in a hyaline matrix can be seen in chondromes.
The hyaline matrix consists of connective tissue fibres and a lot of fluid. It is typically found in cartilage, which is found on joint surfaces. It is assumed that chondromatosis develops from cells that are embryological in nature.
Possibly these are cells that originate from growth joints that have already closed. In addition to the isolated occurrence of chondromas, which does not yet constitute chondromatosis, there are also various clinical pictures that involve chondromatosis. Synovial chondromatosis results from the metaplasia (transformation) of mesenchymal (embryological) precursor cells.
Chondromas as described above are found on the joint surfaces of individual large joints (knee, hip, jaw, shoulder, elbow) and can also float freely in the joint. Maffucci-Kast syndrome is a rare genetic disorder in which children develop chondromas in the sense of chondromatosis and also have haem and lymphangiomas (haemangiomas) in various internal organs. Chondromatosis is also found in Ollier syndrome.
Typically, however, the chondromas are found here only on one side in the long tubular bones. Another genetic disease is the “multiple cartilaginous exostosis”. Here, chondromas and osteochondromas (ossified chondromas) are formed up to the end of the growth joints and protrude from the bone.
Associated symptoms
The accompanying symptoms depend strongly on where the chondromatosis occurs and whether it occurs in the course of a syndrome (combination of several changes) that shows itself to be symptomatic in a different way. A typical accompanying symptom of synovial chondromatosis is wear and tear of the joint. Over the years, the chondromas, which lie on the joint surface or float as free bodies in the joint, rub against the preserved cartilage structure and in the long term lead to its destruction and thus to arthrosis.
In the period before this, pain, movement restrictions and entrapment can occur in the affected joints. These are caused by the free pieces in the joint tilting. In Maffucci-Kast syndrome, pathological fractures can occur due to chondromatosis.
These are fractures of the bone that are caused by an inadequate trauma, such as an accident or a fall, but rather by everyday movements. The fractures occur here at the sites where the chondromas are located. The shape of the bone can change at the sites where larger chondromas are located.
Hemangiomas, which also typically occur, appear on the skin as red vascular bulges. In Ollier type chondromatosis, uneven growth of the bones can occur because the growth joints are affected, and that usually only on one side. Here, as with other chondromatoses, a degeneration of the chondromas can occur. This means that the actually benign tumours change into a malignant form. While this is very rare in the synovial form, it can occur more frequently (up to 25%) in Ollier syndrome.