Trevor’s disease is a rare hereditary disease that manifests itself in disorders of the ossification processes. Those affected suffer from overgrowth of the cartilage that affects one or more bones and mostly occurs on the lower extremities.
What is Trevor’s disease?
Bone tissue forms during ossification. Ossification occurs for both bone growth and bone repair. In desmal ossification, bones form over the intermediate step of connective tissue. Bone formation from cartilage corresponds to chondral ossification. See growtheology for Comprehensive Guide to Cardiofaciocutaneous Syndrome.
If the bone grows through the accumulation of bone tissue, appositional ossification takes place. Ossification processes can take on pathological forms. Doctors call such abnormal ossifications heterotopic ossification. Bone formation is affected by disorders in the context of various diseases.
One such condition is Trevor’s disease (dysplasia epiphysealis hemimelica). The characteristic feature are congenital malformations of the extremities, as they arise as a result of disturbed ossification processes. Trevor’s disease (Trevor’s disease, Fairbank’s disease) manifests itself in the form of circumscribed overgrowth of the cartilage on one or more bones.
David Trevor gave his name to the disease. The rare phenomenon was first described by A. Mouchet and J. Bélot in 1926. Medicine now distinguishes between classic, local and generalized forms.
Causes
As of 2011, the clinical world literature documented around 200 cases of Trevor’s disease. The prevalence is given as around one case per million people. Due to its rarity, the causes of the disease have not yet been finally clarified. The cases documented to date manifest themselves much more frequently in boys than girls.
In addition, scientists documented familial aggregation in their case reports, which suggests a hereditary basis. Trevor’s disease is therefore now associated with chromosomal abnormalities. These are changes in the number or structure of chromosomes that characterize mutations.
Hereditary chromosomal anomalies are genetically determined, but usually only take shape in the context of external harmful influences. In addition, chromosomal abnormalities can occur in the form of new mutations and in this case have no genetic component. The type of chromosomal abnormality in Trevor’s disease has so far remained a matter of speculation.
Also, the causative chromosomes could not be defined in more detail. Scientists at least agree on the type of inheritance: the disease is said to be based on an autosomal dominant inheritance.
Symptoms, Ailments & Signs
Patients with Trevor’s disease suffer from bone deformities, which in most cases are associated with deformities and joint deformities. The deformations often occur unilaterally on the lower extremity, where they primarily affect the distal femur or distal tibia. The epiphyses of the long bones show the strongest symptoms.
An overgrowth can be seen on the bones in the area of the distal-medial ends. The joint symptoms consist of a deformation that leads to misalignments with local swelling. The general symptom is muscle atrophy in the affected areas. Trevor’s disease rarely causes pain.
If joint symptoms occur, however, signs of wear and tear caused by movement can promote joint pain symptoms. The joint symptoms usually do not exist from birth, but only develop in the course of the growth process. Associations have been described for enchondromatosis.
Three dimensions of Trevor’s disease are distinguished by medicine. The local form remains limited to a single bone. Classic Trevor’s disease is more extensive and accounts for about two-thirds of all cases. In the generalized form, all bones are affected.
Diagnosis & course of disease
The diagnosis of Trevor’s disease is made by the doctor using the X-ray image. In addition to the typical localization, the irregular overgrowth is decisive. In addition, several unconnected bone cores usually appear as attachments to the epiphyses. Precise imaging by means of MRT is used to confirm the diagnosis.
In the histology of the tissue, the changes can hardly be differentiated from the osteochondroma, which, however, always occurs in the area of the metaphysis. A possible differential diagnosis is synovial chondromatosis or trauma-related fragmentation. The prognosis for patients with Trevor’s disease depends on the extent of the changes in the individual case.
Complications
Those affected by Trevor’s disease suffer from various deformations of the bones. These deformations usually lead to restricted movement and a misalignment of the feet or other joints. In most cases, swelling occurs and those affected suffer from muscle atrophy and thus reduced resilience.
It is not uncommon for the pain to spread from the affected areas to other areas of the body, where it can also lead to symptoms. Pain at night can cause trouble sleeping and depression. As a rule, Trevor’s disease can be diagnosed relatively easily and quickly, so that early treatment of this disease is also possible.
As a rule, there are no special complications, since the symptoms can only be treated symptomatically. Treatment must take place, especially in children, so that there are no complications or other problems during growth. In most cases, the limitations can be treated relatively well with physiotherapy. In terms of life expectancy, Trevor’s disease does not lead to any further restrictions or complications.
When should you go to the doctor?
Irregularities in the range of motion, malpositions of the body or a crooked posture must be presented to a doctor and examined by him. If there are limitations in general mobility, changes in joint activity or a decrease in physical resilience, a doctor is needed. If sporting activities or usual movement sequences cannot be practiced or can only be practiced to a limited extent, the person concerned needs medical care. In the case of pain, swelling or deformation of the bones and joints, there is an acute need for action. A doctor’s visit is necessary for a diagnosis. Due to possible side effects, pain medication should only be taken in consultation with a doctor.
If existing irregularities spread further or if there is an overgrowth in various parts of the skeletal system, a doctor’s visit is advisable. An optical blemish on the physique indicates an existing condition that needs to be treated. Sleep disorders or irregularities in the autonomic system should be discussed with a doctor.
If, in addition to the physical symptoms, there are also emotional or psychological abnormalities, a doctor’s visit is also necessary. Behavioral problems, a withdrawal from social life and a depressive appearance must be discussed with a doctor. A persistent reduction in well-being and persistent strong mood swings can lead to other illnesses that need to be prevented in good time.
Treatment & Therapy
A causal therapy does not yet exist for patients with Trevor’s disease. The disease is therefore considered incurable and can only be treated symptomatically. Accordingly, the exact therapy depends on the symptoms in the individual case. Depending on the extent of the overgrowth, surgeries to remove the excess tissue may take place.
However, such operations do not achieve any lasting effects before the bone maturation is complete. In the course of the growth processes, the patients develop recurrences. For this reason, the doctor treating you must weigh the benefits of the operation against the risks of the operation before the bone growth is complete. If the patient suffers from subsequent symptoms such as chronic tendonitis or severe misalignment of the joints with corresponding signs of wear and tear, a surgical intervention for short-term relief of the tendons and joints can make sense.
If, on the other hand, the overgrowth is limited and there is neither pain nor joint or tendon changes, operations before the bone has matured are usually not worthwhile. In the case of malpositions, patients usually receive physiotherapy, which prevents movement restrictions and has shown positive effects on the general course of the disease in the past.
Outlook & Forecast
Trevor’s disease has a relatively poor prognosis. The disease can only be treated symptomatically. As a result, the symptoms can be reduced and the restrictions in everyday life reduced to a minimum. However, up to the end of the skeletal maturation, new symptoms can always appear, which cause further complaints and must be treated accordingly. Early diagnosis and treatment of Trevor’s disease is all the more important.
The various pain syndromes that can occur during the course of the disease are particularly problematic. As the disease progresses, various mental illnesses can develop. Any anxiety disorders or depression worsen the prospect of a symptom-free life, as they also restrict the patient. The medication ensures that the affected joints can be moved normally despite the pain. Otherwise, further misalignments and bone damage can occur, which also worsen the prognosis.
Patients should speak to their healthcare professional about the prognosis. The doctor gives the prognosis based on the symptoms and other factors such as the course of the disease. Life expectancy is not limited in Trevor’s disease. However, the final prognosis must be made by the doctor in charge.
Prevention
There is currently no way to prevent Trevor’s disease. Since the disease is a genetic disease, those affected can only seek genetic counseling during the family planning phase to prevent further cases.
Aftercare
In most cases, those affected with Trevor’s disease have only very limited and very few measures and options for direct aftercare available. First and foremost, the person affected should see a doctor very early on in order to prevent the occurrence of further complications and symptoms, since Trevor’s disease cannot heal on its own.
Due to the hereditary condition, those affected should also have a genetic test and counseling carried out if they wish to have children in order to prevent the disease from recurring in their offspring. In many cases, Trevor’s disease requires physiotherapy or physiotherapy. The person concerned should repeat the exercises at home in order to increase the mobility of the body.
Many patients also depend on the help and support of their own families in their everyday lives. Loving and intensive conversations are also very important, as this can also prevent depression and other psychological upsets. Obesity should also be avoided, although in general a healthy lifestyle with a healthy diet can have a positive effect on the further course of this disease. Usually Trevor’s disease does not reduce the patient’s life expectancy.
You can do that yourself
Children with Trevor’s disease need the support of family and friends first and foremost. The actual healing process can be supported at home with yoga, Pilates or physiotherapy exercises. It is advisable to keep a complaints diary. Especially during the growth phase, new bone structures develop again and again, which can cause pain of varying severity depending on the location. The weather and other factors also have an impact on how severe the bone changes are.
The quicker the changes are recognized, the more effectively countermeasures can be taken with the help of operational measures. Trevor’s disease progresses until the end of the child’s physical growth, so careful monitoring for unusual symptoms and signs is required, usually beyond puberty. If the knee joint, ankle joint or foot bones are affected, the child needs a walking aid or a wheelchair. If the ability to move is severely restricted, household modifications may also have to be carried out.
After a surgical procedure, the surgical wound should be carefully tended to. In the first few days, you should not do any sport that could put a lot of strain on the affected limb. In the case of bone changes in the shinbone area, running and cycling should initially be avoided, while gymnastic exercises can be carried out without involving the feet.
