Hemihypertrophy is one of the congenital malformation syndromes. The condition is usually diagnosed in early childhood. In it, uneven growth in size of the body or in parts of it takes place.
What is hemihypertrophy?
Hemihypertrophy is also known as hemihypergyrism. It is a very rare condition worldwide. It is diagnosed with a frequency of 1:1000,000. Hemihypertrophy is characterized by a one-sided overgrowth of the body. Under normal circumstances, the body is symmetrical. If there is a size discrepancy of five percent between the halves of the body, physicians refer to it as hemihypertrophy. The difference in size growth can also refer to individual parts of the body, such as the extremities. In most cases, the condition is a congenital anomaly. Hemihypertrophy is a special form of hypertrophy. In this, patients are found to have enlarged organs or tissue development. The asymmetry of growth in hemihypertrophy may refer to paired internal organs in some cases. In the hereditary disease, there may be additional changes in the skin and teeth. Hemihypertrophy is a complex clinical picture. It may occur as an isolated disease or be diagnosed as part of a syndrome. The condition may be congenital or may develop during the first years of life during each growth phase. In very few cases, hemihypertrophy develops at an older age due to inflammatory processes.
Causes
The cause of hemihypertrophy is considered to be poorly understood. It is thought to be a genetic predisposition. However, specific findings are not currently available. In all likelihood, the condition is not hereditary. In most cases, the malformation seems to form in the first days of pregnancy. As a result of the change in one cell, all the cells arising from it grow faster than the others. Depending on the time of the mutation, the strength of the expression of the size growth is to be evaluated. In most cases hemihypertrophy is congenital. However, it can also be expressed in the first years of life during growth development. In addition, documented cases show that the disease may develop later in life due to inflammatory processes. Proliferative processes such as osteomyelitis are well known. This is an infectious inflammation of the bone marrow in humans. In addition, hemihypertrophy can be diagnosed as part of other syndromes. These include Proteus syndrome, Silver-Russell syndrome, Beckwith-Wiedemann syndrome, or Klippel-Trenaunay syndrome.
Symptoms, complaints, and signs
The first signs of hemihypertrophy may appear shortly after birth. The overgrowth of one half of the body is already evident in infants. The fundamental disruption of the symmetry of the human body is a prominent symptom of the condition. Soft tissues such as muscles, skin or tendons are involved in the process of size changes. Additional abnormalities in the facial region, especially in the teeth or skin are possible. In some patients, endocrine disorders such as thyroid disease or diabetes also occur. In some cases, the asymmetrical development of the body is formed only in the growth phases. Different leg or arm lengths are noticeable in the patient. Likewise, uneven development of the upper body is possible. Other symptoms may include local size changes in paired organs. Hemihypertrophy results in malformation of blood vessels. Circulatory disturbances can be expected in the affected areas of the body. The skin is often described as marbled and slightly bluish. In addition, swelling of the skin and wound formation occur.
Diagnosis
Hemihypertrophy is initially diagnosed by visual inspection of the asymmetry. The physician then measures the affected body parts and documents the abnormalities. This is followed by examinations such as ultrasound, X-ray or various scans. This is used to determine the exact size differences. Furthermore, the involvement of the organs is checked via this.Because the asymmetric growth prevents the anomaly from growing, the asymmetry can be expected to worsen as the child grows.
Complications
Hemihypertrophy causes asymmetry in the patient’s growth in most cases. In this case, one half of the body is affected by severe overgrowth. The overall symmetry of the affected person is significantly disturbed by this disease and is no longer in balance. Muscles or vision can be damaged, and the skin is also often affected by discomfort. In addition, malformations of the teeth occur, so that the intake of food or liquids is associated with considerable pain. It is not uncommon for patients to suffer from diabetes. The lengths of the arms and legs can vary on the different sides, which leads to considerable restrictions in everyday life. Movement restrictions also occur. In some cases, the internal organs can also be affected by hemihypertrophy. In this case, there are disturbances in blood circulation and severe swelling. In most cases, there are also psychological complaints and inferiority complexes. Especially in children, the disease often leads to teasing and bullying, which extremely reduces the quality of life. Direct treatment of the symptoms is not possible. In some cases, the deformities can be surgically removed. No further complications occur in this process.
When should one go to the doctor?
To avoid further complications and discomfort in adulthood from the condition, it should be treated by a doctor at the first signs. The first signs of hemihypertrophy may appear as early as after birth. The children suffer from a significant overgrowth or asymmetry of the entire body. These symptoms are usually also noticed by doctors after birth. Furthermore, malformations also occur in the face, which may indicate hemihypertrophy. The length of the legs and arms are also different, so that the child has to struggle with significant difficulties in everyday life. If these complaints occur, an examination by a doctor is necessary. Swelling of the skin or disturbances in blood circulation also usually indicate hemihypertrophy. The diagnosis can be made by a pediatrician or by a general practitioner. Patients are dependent on various specialists for further treatment, as hemihypertrophy can only be treated symptomatically. Hemihypertrophy does not result in decreased life expectancy.
Treatment and therapy
Treatment of hemihypertrophy is highly individualized. If the balance is disturbed due to the different weight distribution in the body, the patient needs therapeutic support. Special training is performed for this purpose. As far as possible, sporting exercises are used to compensate for malpositions and relieve the musculature. Tensions in the body should be reduced. Existing leg length differences can be compensated by orthopedic shoe fitting. Special shoes with integrated shoe construction are manufactured for this purpose. In addition, various surgical interventions may be performed. Their aim is to compensate for the difference in size of the halves of the body. In most cases, the patient suffers from pain due to the misalignment of the body. Therefore, medical treatment to alleviate the discomfort is very likely. Tooth misalignments are accompanied by orthodontic treatment. This can lead to surgical intervention or tooth correction by means of braces. In the case of differences in the size of paired organs, the extent to which these can be adjusted by surgical intervention is examined. Changes in the skin are usually corrected via cosmetic forms of treatment such as laser beam therapy or local surgery.
Outlook and prognosis
The prognosis of hemihypertrophy depends on its severity and the intensity of treatment. It is true that the disease is not fatal. However, it always leads to asymmetrical body proportions. The hemiplegic giant growth can be corrected by surgical measures. However, complete restoration of body symmetry is not possible. Uneven body growth favors the development of scoliosis. As a rule, scoliosis (curvature of the spine) can be treated well by physiotherapy or corset therapy.However, this is not possible with this form of hemihypertrophy due to the uneven growth. In this case, the curvature of the spine can only be corrected by surgery. A difference in leg length must also be surgically compensated in order not to risk further consequential damage such as scoliosis and severe postural defects. Therapy also includes the individual production of foot orthotics and custom-made shoes. Hemihypertrophy is always associated with malpositioned teeth. Their correction is also possible only surgically. In order to achieve an extensive alignment of both halves of the body, constant surgical interventions are necessary during growth. The uneven body development always leads to pain, which requires pain therapy. Although life span is not affected by hemihypertrophy, quality of life is reduced despite all treatment measures. In addition to the physical discomfort, sufferers often face constant teasing. As a result of the chronic pain and constant bullying, the development of mental illness is favored.
Prevention
Taking preventive measures is not known in hemihypertrophy. However, since it is suspected that the disease may increase the risk of developing a tumor, the patient should attend preventive examinations in this regard. In particular, this concerns cancers of the kidney.
Follow-up
In hemihypertrophy, the focus is on early detection and treatment of the disease to prevent further complications or discomfort. The earlier the disease is detected and treated in this process, the better the further course is in most cases. Therefore, the affected person should already consult a doctor at the first symptoms or signs of the disease in order to prevent further complications or complaints. The measures or options for follow-up care are severely limited in hemihypertrophy. In most cases, symptoms are relieved by surgical intervention, although interventions vary according to the nature and severity of the exact symptoms. In general, the affected person should rest and take care of his body after such an operation. Efforts or stressful and physical activities should be avoided. Physiotherapy measures can also be very helpful, although many of the exercises can also be performed in the patient’s own home. Furthermore, wearing special shoes can also alleviate the symptoms. The life expectancy of the affected person is usually not reduced by hemihypertrophy, if the disease is detected and treated early.
What you can do yourself
Due to hemihypertrophy, most affected individuals suffer from an increased risk of tumor development. For this reason, affected patients should participate in regular examinations to avoid further complications. In particular, the kidneys must be examined, as they are particularly affected by the tumors. If the affected person suffers from dental complaints or malocclusions of the teeth, these are usually treated by a dentist. There is no special self-help available to the affected person, although proper care of the teeth can have a positive effect on these complaints. The misalignment of the body is treated with various therapies and exercises. These can usually be performed at home. Performing various sports can also have a positive effect on this crookedness and eliminate it. Furthermore, in case of hemihypertrophy, it is advisable to wear specially made shoes to strengthen the child’s posture. In the case of psychological complaints, discussions with other affected persons or with one’s own parents and friends can be very helpful. A psychologist should be consulted in cases of severe depression. In many cases, the symptoms of hemihypertrophy can be relatively well alleviated.
