Patients with enchondromatosis suffer from multiple tumors of the bones that cause growth disorders, fractures and malalignments. 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 enchondromatosis?
According to PERCOMPUTER, 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, enchondromas are part of a larger disease context. This is the case, for example, with enchondromatosis. Multiple enchondromas 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 enchondromatosis 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 enchondromatosis 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.
For patients with enchondromatosis, the prognosis depends primarily on any abnormalities that may occur and their timely identification. The earlier the onset of the disease, the more severe the course.
Enchondromatosis can lead to various complications, most of which are associated with the further growth of tumors in the bones. The other growth disorders on the body and the malformations can also make everyday life for the patient relatively difficult and reduce the quality of life. The person concerned usually does not suffer from pain.
The tumors themselves only grow until the end of their growth in childhood, although this is impaired. Different deformations can occur on the skeleton, which lead to different complications in different places. Most of the time, the malformations are accompanied by restricted mobility. #
There are no complications with the treatment itself. However, the patient must be prepared for frequent and regular check-ups by the doctor in order to avoid possible consequential damage. In the case of severe malformations or the spread of tumors, surgical interventions can be used. As a rule, these are positive.
The earlier the tumors are treated, the higher the chances of a complete cure. The restricted mobility can be treated with the help of physiotherapy. Early examination and treatment will not reduce the life expectancy of those affected.
When should you go to the doctor?
Parents who notice fractures, deformities, or stunted growth in their child should seek medical advice. These symptoms indicate a serious condition that needs to be diagnosed and treated. Only a doctor can determine whether this is an enchondromatosis.
If serious complications arise, an immediate clarification by the orthopedic surgeon or a specialist in tumor diseases is required. If the child complains of bone pain, neurological disorders or restricted mobility, a doctor must be consulted immediately.
Regular check-ups in the clinic are indicated during and after treatment, because consequential damage can only be reliably avoided through close monitoring. If recurrences occur, i.e. tumors occur again, this requires immediate clarification by the responsible doctor.
In the event of accompanying complaints such as joint wear, misalignment, neurological complaints or bone diseases, the appropriate specialist must be consulted. In addition, depending on the extent of the enchondromatosis, physiotherapeutic treatment is recommended. In individual cases, therapeutic advice is also useful.
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. Basically, enchondromatosis is countered with supportive measures such as check-ups.
Not every enchondroma 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 enchondromatosis 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
The prognosis for enchondromatosis is poor. The disease has genetic causes that cannot be cured. Since a change in genetics is not permitted for legal reasons, treatment can only take place on a symptomatic level.
Misalignments and malformations are corrected through surgical interventions. Despite all efforts, a complete freedom from symptoms is usually not achieved. In addition, due to the natural growth process, several operations are necessary in many patients in order to optimize the musculoskeletal system. When making a prognosis, it must be taken into account that surgical interventions are generally associated with risks and side effects. Complications can arise that further worsen the prognosis.
In addition to changes in the skeletal system, enchondromatosis causes tumors to develop. These are closely monitored in medical care and removed if they become degenerate. In the course of the growth process, the sick people develop new tissue changes. The recurrence of tumors causes emotional and mental problems in children and adolescents. In severe cases, secondary diseases can occur. If mental disorders develop, this further worsens the overall prognosis.
Without medical care, the affected person suffers severe pain and irregularities in the musculoskeletal system. Lifelong impairments are to be expected, which lead to a severely restricted quality of life.
So far, two different mutations have been discovered that seem to be related to the pathogenesis of enchondromatosis. 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 the case of enchondromatosis, the options for follow-up care are severely limited in most cases, as it is a genetic disease. For this reason, the early diagnosis and early treatment of enchondromatosis are in the foreground in order to prevent further complications. Even after successful treatment of the disease, the person affected should have regular examinations in order to identify and remove further tumors at an early stage.
If the person concerned wishes to have children, genetic counseling and examination can also be useful in order to avoid passing the disease on to their descendants. In most cases, the symptoms are relieved with the help of surgical interventions. After removing the tumors, the person affected should always rest and take care of their body.
In this case, strenuous activities or other stressful or sporting activities should be avoided in order not to unnecessarily burden the body. The intensive and loving care by one’s own family and friends can also support the healing process. It cannot be universally predicted whether enchondromatosis will lead to a reduced life expectancy.
You can do that yourself
Echondromatosis causes multiple cartilage-like tumors on the bones. In those affected, the genetically determined symptom already develops growth disorders in infancy, which are also manifested in deformities and fractures. Self-help therefore takes place a priori on the part of the parents for the child and includes in particular psychologically effective measures of support, loving care and compliance with the clinically drawn up therapy plan.
Medically, regular so-called degeneration monitoring of individual tumors must be carried out, which often require several surgical interventions, also to compensate for severe physical deficits as well as possible. From the beginning, the parents should give their child a consistent physiotherapy and also follow the exercises at home.
The administration of medication and the numerous stays in the clinic impair the immune system of the children and adolescents affected. Therefore, a healthy diet rich in vitamins and omega-3 fatty acids as well as sufficient exercise in the fresh air is a valuable addition.
In particular, an intact, well-protected family life helps affected children to deal with the circumstances of echondromatosis in the transition to adolescence. To this end, you should aim for a regulating daily routine with massages and attendance at occupational and psychotherapy. In self-help, parents have the opportunity to learn acupressure methods to relieve their children from pain in everyday life.