Patients with enchondromatosis suffer from multiple tumors of the bones that cause growth disturbances, fractures, and deformities. A genetic mutation appears to be responsible for the disease. Treatment is limited to correction of deformities, fracture treatment, and degeneration monitoring of the individual tumors.
What is enchondromatosis?
Enchondromas are cartilaginous tumors that arise primarily from the diaphyses of the phalanges. In some cases, the tumors also occur in the metaphyses of long bones. Scientists now believe that epiphyseal joint remnants in the metaphyses give rise to enchondromas. For a long time, the tumors remain asymptomatic. As they progress, they become noticeable through pain and unexplained fractures. In certain cases, enchondromas are present as part of a larger disease context. This is the case, for example, with enchondromatosis. In this disease of the skeleton, multiple enchondromas occur. Enchondromatosis is a rather rare disease, with a prevalence estimated at about one case in 100,000 people. The disease usually affects children. The first symptoms usually manifest 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. Thus, the disease is not conclusively understood to date.
Causes
The etiology and pathogenesis of enchondromatosis are not conclusively understood. However, although the etiology is not conclusively understood, some apparent causative backgrounds are now known. Genetic mutations have been detected in a large number of documented cases. These mutations in the genetic material were localized in the IDH1 and IDH2 genes, which code for isocitrate dehydrogenase 1 and 2 within the DNA. These subtances are enzymes that are active as catalysts like all other enzymes. Catalysts are biochemical reaction accelerators. In the case of the above enzymes, catalysis refers to the synthesis of α-ketoglutarate, a product of the citrate cycle. The disease-causing mutations are somatic alterations. Since no familial clustering has been documented for the gene mutations to date, the mutations are probably not hereditary events. Therefore, enchondromatosis is not considered by scientists to be a genetic disease.
Symptoms, complaints, and signs
In principle, enchondromatosis is the multiple occurrence of single chondromas, enchondromas, and juxtacortical chondromas. Most commonly, the tumors occur near the growth plate in the epiphyses, or strike the metaphyses of the long tubular bones and distal foot and hand bones. The growth of the tumors usually follows the growth phases of the infantile skeleton. With the end of the growth in length, the tumors usually also stop growing. In most cases, the bone changes initially remain painless. However, growth impairment occurs, which may be associated with deformities and fractures. In addition to malpositions, further complications may occur. The most serious complication presents with malignant degeneration of the skeletal lesions. The risk for later chondrosarcomas is about 25 percent for patients. Medical literature also indicates an increased risk in patients for neoplasms such as astrocytomas, granulosa cell tumors and pancreatic carcinomas.
Diagnosis and progression
The physician usually makes the diagnosis of enchondromatosis on conventional radiographs. On these images, the affected portions of the skeleton show multiple enchondromas that appear as cystic distensions without marginal sclerosis. Depending on the age of the lesions, calcifications may be present. In addition, fractures in the affected portions of the skeleton may be an important clue. If malignant degeneration is already suspected at the time of diagnosis, this suspicion must be further clarified. This requires a biopsy, which allows histopathological examination. The prognosis for patients with enchondromatosis depends primarily on any degeneration that may occur and its timely identification. The earlier the onset of the disease, the more severe the course is often.
Complications
Various complications may occur in enchondromatosis, mainly from the further growth of tumors in the bones. The other growth disorders on the body and the malformations can also make the patient’s daily life relatively difficult and reduce the quality of life. The affected person usually does not suffer from pain. The tumors themselves also grow only until the end of growth in childhood, although this is impaired. Different deformities of the skeleton can occur, leading to different complications in different places. Mostly the deformities are accompanied by movement restrictions. #
There are no complications during the treatment itself. However, the patient must be prepared for frequent and regular check-ups with 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 have a positive outcome. The earlier the tumors are treated, the higher the chances of a complete cure. Movement restrictions can be treated with the help of physiotherapy. With early examination and treatment, the life expectancy of the affected person is not reduced.
When should you see a doctor?
Parents who notice fractures, deformities, or growth disturbances in their child should consult a physician. These symptoms indicate a serious condition that needs to be diagnosed and possibly treated. Only a medical professional can determine if the condition is enchondromatosis. If serious complications develop, immediate clarification by an orthopedist or a specialist in tumor diseases is required. If the child complains of bone pain, neurological disorders or movement restrictions, a doctor must be consulted immediately. During and after treatment, regular check-ups in the clinic are indicated, because only close monitoring can reliably prevent consequential damage. If recurrences occur, i.e. tumors reappear, this requires immediate clarification by the responsible physician. In the case of concomitant complaints such as joint wear, malpositions, neurological complaints or bone diseases, the appropriate specialist must be consulted. Accompanying physiotherapeutic treatment is recommended, depending on the extent of the enchondromatosis. In individual cases, therapeutic counseling is also useful.
Treatment and therapy
A causal treatment option does not exist for patients with enchondromatosis. In the future, genetic therapeutic approaches may provide relief, but these approaches have not yet reached the clinical phase. Basically, enchondromatosis is mainly treated with supportive measures such as control examinations. Not every enchondroma needs to be examined histologically. However, if one of the tumors turns out to be suspicious during the control examination, histology must be performed. Possible degenerations can thus be detected at an early stage and treated if necessary. In addition to regular check-ups, patients with enchondromatosis basically only receive symptomatic treatment in the event of complications. Pathological fractures as well as pain and growth disorders require surgical intervention. In the case of malalignment, for example, realignment surgery is indicated to prevent incorrect loading and associated secondary complaints. Realignment operations are usually relatively complex operations. The need for repeated operations is conceivable to correct malpositions. Moreover, after such operations, consistent physiotherapy becomes an absolutely necessary treatment step. If the lesions or the malposition corrections cause more severe pain, short-term treatment with pain-relieving medications is an option.
Outlook and prognosis
The prognosis of enchondromatosis is unfavorable. The disease has genetic causes that are not curable. Because alteration of genetics is not permitted for legal reasons, treatment can only be at the symptomatic level. Malpositions and deformities are corrected by surgical intervention. Despite all efforts, complete freedom from symptoms is usually not achieved.Furthermore, in many patients, several operations are necessary due to the natural growth process in order to achieve an optimization of the musculoskeletal system. When determining the prognosis, it must be taken into account that surgical interventions are fundamentally associated with risks and side effects. Complications can occur that lead to a further deterioration of the prognosis. In addition to changes in the skeletal system, enchondromatosis causes the development of tumors. In a medical care, these are closely monitored and removed in case of degeneration. In the course of the growth process, the diseased persons experience a reformation of the tissue changes. The recurrence of the tumors causes emotional and psychological problems in children and adolescents. In severe cases, secondary diseases may occur. If psychological disorders develop, this additionally worsens the overall prognosis. Without medical care, the affected person suffers severe pain and irregularities of the musculoskeletal system. Lifelong impairments are to be expected, leading to a severely reduced quality of life.
Prevention
To date, two different mutations have been discovered that appear to me related to the pathogenesis of enchondromatosis. Which external factors are responsible for the mutations remains unclear to date. Therefore, no preventive measures are available for the bone disease at the present time. Preventive measures are not expected until the pathogenesis and etiology are finally clarified.
Follow-up
In most cases of enchondromatosis, the options for follow-up are severely limited because it is a genetic disease. For this reason, early diagnosis and also early treatment of enchondromatosis are the main focus in this case to prevent further complications. Even after successful treatment of the disease, the affected person should undergo regular examinations in order to detect and remove further tumors at an early stage. If the affected person wishes to have children, genetic counseling and examination may also be useful in order to avoid possibly inheriting the disease to descendants. In most cases, the symptoms are relieved with the help of surgical intervention. After the removal of the tumors, the affected person should always rest and also take care of his body. In this context, strenuous activities or other stressful or sporting activities should be avoided in order not to put unnecessary strain on the body. 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 result in decreased life expectancy.
Here’s what you can do yourself
Echondromatosis causes multiple cartilage-like tumors on the bones. In affected individuals, the genetic symptom causes growth disturbances as early as infancy, which also manifest as 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 attention and adherence to the clinically prepared therapy plan. Medically, a regular so-called degeneration monitoring of individual tumors must take place, which often require several surgical interventions, also in order to compensate for severe physical deficits as well as possible. From the beginning, parents should provide their affected child with consistent physiotherapy and also follow the exercises at home. Due to the medication and the numerous stays in the clinic, the immune balance of the affected children and adolescents is impaired. Therefore, a healthy diet rich in vitamins and omega-3 fatty acids as well as sufficient exercise in the fresh air is a valuable supplement. In particular, an intact well-protected family life helps affected children to cope with the circumstances of echondromatosis in the transition to adolescence. In this regard, a regulating daily routine with massages and visits to occupational and psychotherapy should be aimed for. In self-help, parents have the opportunity to learn methods of acupressure in order to ease their children’s pain in everyday life.
