Echondromatosis Overview


Patients with echondromatosis suffer from multiple tumors of the bones that cause growth disorders, fractures and deformities. A genetic mutation appears to be responsible for the disease. The treatment is limited to the correction of malpositions, the treatment of fractures and the monitoring of the degeneration of the individual tumors.

What is echondromatosis?

According to aviationopedia, Enchondromas are cartilaginous tumors that predominantly originate from the diaphyses of the phalanges. Some of the tumors also occur in the metaphyses of long tubular bones. Science now assumes that epiphyseal plate residues give rise to enchondromes in the metaphyses.

The tumors remain asymptomatic for a long time. They become noticeable in the further course through pain and inexplicable fractures. In certain cases, echondromas are part of a larger disease context. This is the case, for example, with echondromatosis. Multiple echondromas occur in this skeletal disease.

Enchondromatosis is a rather rare disease, the prevalence of which is estimated at around one case in 100,000 people. The disease usually affects children. The first symptoms usually manifest themselves clinically within the first ten years of life. Due to the limited number of cases, the research situation in the context of echondromatosis is relatively poor. So far, the disease has not been conclusively understood.


The etiology and pathogenesis of echondromatosis have not been conclusively clarified. Although the etiology is not fully understood, some apparently causal backgrounds are now known. Genetic mutations have been detected in a large number of the documented cases.

These changes in the genetic material were located in the genes IDH1 and IDH2, which code for isocitrate dehydrogenase 1 and 2 within the DNA. These substances are enzymes that, like all other enzymes, are active as catalysts. Catalysts are biochemical reaction accelerators. In the case of the enzymes mentioned, catalysis refers to the synthesis of α-ketoglutarate, a product of the citric acid cycle.

The mutations that cause disease are somatic changes. Since no familial accumulation has been documented for the gene mutations so far, the mutations are probably not hereditary events. Scientists therefore do not consider enchondromatosis to be a genetic disease.

Symptoms, ailments & signs

In principle, enchondromatosis is the multiple occurrence of individual chondromas, enchondromas and juxtacortical chondromas. The tumors usually occur near the growth plate in the epiphyses or meet the metaphyses of the long tubular bones as well as the distal foot and hand bones.

The growth of the tumors is usually based on the growth phases of the child’s skeleton. At the end of the growth in length, the tumors usually no longer grow either. The bone changes usually remain painless at first. However, growth is impaired, which can be associated with deformities and fractures.

In addition to misalignments, other complications can occur. The most serious complication is the malignant degeneration of the skeletal lesions. The risk of later chondrosarcomas for the patient is around 25 percent. The medical literature also indicates an increased risk for patients with neoplasms such as astrocytomas, granulosa cell tumors and pancreatic carcinomas.

Diagnosis & course

The doctor usually makes the diagnosis of echondromatosis using conventional x-rays. The affected parts of the skeleton show multiple enchondromas in these images, which appear as cystic swellings without marginal sclerosis. Depending on the age of the lesions, calcifications may be present.

In addition, fractures in the affected parts of the skeleton can be an important indicator. If malignant degeneration is suspected at the time the diagnosis is made, this suspicion must be further clarified. This requires a biopsy, which enables a histopathological examination.

The prognosis for patients with echondromatosis depends above all on any degenerations that may occur and their timely identification. The earlier the onset of the disease, the more severe the course.

When should you go to the doctor?

If a tumor is suspected, it is best to consult a doctor immediately. Echondromatosis usually involves multiple occurrences of tumors that span the entire body. The possible warning signs are correspondingly diverse – such as increasing pain, visible nodules or a general feeling of illness that usually increases rapidly. In the further course, symptoms of the internal organs, especially the pancreas, indicate echondromatosis.

If unusual misalignments of the foot and hand bones are noticed, the echondromatosis may already have advanced. At this point at the latest, a doctor must be consulted immediately. This can determine the disease with the help of conventional tube images and initiate treatment directly.

In general, the earlier the disease is detected, the better the chances of a full recovery. It is therefore advisable to speak to a doctor at the first signs of echondromatosis. Anyone who already has cases of genetic mutations in the family should have a preventive medical check-up. Somatic changes after a serious illness must also be clarified immediately.

Treatment & Therapy

There is no causal treatment option for patients with enchondromatosis. In the future, genetic therapy approaches may be able to provide a remedy, but these approaches have not yet reached the clinical phase. In principle, echondromatosis is countered with supportive measures such as check-ups.

Not every echondroma has to be examined histologically. However, if one of the tumors turns out to be suspicious during the check-up, a histology must be carried out. In this way, possible degeneracies can be discovered at an early stage and, if necessary, treated. In addition to regular check-ups, patients with echondromatosis basically only receive symptomatic treatment if there are complications.

Pathological fractures, as well as pain and stunted growth, require surgical intervention. In the case of misalignments, for example, a conversion operation is indicated in order to prevent incorrect loads and the associated subsequent complaints. Changeover operations are usually relatively complex operations.

The need for repeated interventions is conceivable to correct misalignments. In addition, consistent physiotherapy becomes an essential treatment step after such operations. If the lesions or the correction of the misalignment cause more pain, a brief treatment with pain reliever medication is recommended.

Outlook & forecast

A direct prediction of the prospect and prognosis of an echondromatosis cannot be given, as the course of the disease depends very much on the severity and type of the tumor. However, if there is no treatment for echondromatosis, the life expectancy of the patient is usually also reduced, since the spread of the tumors usually leads to the patient’s death.

Since the misalignments are not corrected either, the life of the person affected is significantly more difficult, so that they suffer from restricted mobility and a reduced quality of life.

Treatment of echondromatosis can resolve most deformities relatively well. The affected person can move freely again and is usually no longer dependent on the help of other people. However, more physical therapy is needed to restore full movement.

Furthermore, the person concerned is also dependent on regular examinations of the tumors in order to avoid metastasis. This is the only way to increase life expectancy. Even with successful treatment of echondromatosis, many sufferers also suffer from psychological complaints and need psychological help.


So far, two different mutations have been discovered that seem to be related to the pathogenesis of echondromatosis. Which external factors are responsible for the mutations has not yet been clarified. Therefore, no preventive measures are currently available for the bone disease. Preventive measures can only be expected after the pathogenesis and etiology have been finally clarified.


In most cases, there are no special or direct follow-up measures available to those affected by echondromatosis. Early diagnosis is crucial. This can prevent further complications or even further worsening of the symptoms. As a rule, echondromatosis cannot heal itself.

In order to detect other tumors in good time, the patients are dependent on regular examinations by a doctor. A new treatment is only necessary if further tumors occur, so that there are usually no follow-up measures. The malpositions and the tumors are removed by surgical interventions.

After such an operation, the patient should definitely rest and take care of the body. In most cases, accompanying physiotherapy is necessary. Those affected can also carry out many exercises from such a therapy in their own home and thus accelerate the healing process. It may also be necessary to take medication, whereby the doctor’s instructions must always be followed. Whether echondromatosis will reduce life expectancy cannot be universally predicted.

You can do that yourself

Conventional medicine is currently only able to treat symptoms based on the symptoms. Due to the severity of the impairment of the child’s growth, specialist treatment must be provided here. Self-treatment alone is not possible. Parents can and must be an emotional support for their children and only have the option of alleviating symptoms with a few measures.

Affected children have to pass several operations until the end of the growth phase. Anesthesia and hospitalization weaken the immune system. Self-treatment should therefore focus on strengthening the immune system. Through a balanced diet rich in vital substances, regular exercise within the scope of physical possibilities and loving integration into family life.

Parents can also visit occupational therapy and massages and integrate them firmly into the child’s daily routine. Physiotherapy exercises are a crucial part of treatment. They ensure patient mobility.

For acute pain, over-the-counter medications such as ibuprofen or paracetamol can be given. Preparations made from snowball and valerian are natural pain relievers. Acupuncture and acupressure can also relieve pain and anxiety. In the case of older children, the emotional burden should not be underestimated. Because of the disability, those affected often feel on the edge of social groups. Visiting a psychotherapist or a self-help group could also be an option.