Amelogenesis imperfecta is a genetic dental disease. Congenital enamel hypoplasia results in impaired enamel formation. The affected teeth have an increased risk of developing caries and are very sensitive to temperature. In principle, any tooth can be affected by amelogenesis imperfecta.
What is amelogenesis imperfecta?
The main cause for the development of amelogenesis imperfecta is the disruption of enamel formation. The congenital disorder of enamel formation that occurs in amelogenesis imperfecta is caused by proteins that malfunction. Tooth enamel is mainly composed of minerals whose structure is controlled by certain protein components. The proteins responsible for amelogenesis imperfecta are enamelin, ameloblastin, amelogenin and tuftelin. Teeth affected by amelogenesis imperfecta exhibit a yellowish to grayish or brownish discoloration. Amelogenesis imperfecta is clustered in individuals with the so-called Williams-Beuren syndrome.
Causes
The main cause of the development of amelogenesis imperfecta is the disturbance of enamel formation. In this case, the tendency to impaired enamel formation is congenital. The disease can be inherited either autosomal-recessive, autosomal-dominant or x-chromosomal. Depending on the localization of amelogenesis imperfecta, different forms of the disease result. In addition, observations show that amelogenesis imperfecta occurs more frequently with various disorders of the teeth, for example, in combination with eruption disorders of teeth, hard substance formation at the margin of the pulp of the tooth, crown and root resorption, or tooth undercount.
Symptoms, complaints and signs
Amelogenesis imperfecta can, in principle, affect both deciduous and permanent teeth. The disease can manifest itself in numerous different symptoms. For example, the teeth may show visual changes, such as a rough and dull surface or yellowish to brownish discoloration. The enamel surface may be shiny and prone to rapid chipping. The enamel thickness is often reduced in spots or over a wide area. In addition, teeth affected by amelogenesis imperfecta are usually hypersensitive and especially very sensitive to high and low temperatures. There may be a lack of contact points with adjacent teeth and very soft enamel. In addition, amelogenesis imperfecta can lead to various impairments of the gums, for example in the form of gingivitis or gingival hyperplasia. Other possible symptoms include a frontal open bite and loss of bite height. In general, amelogenesis imperfecta may be associated with pain in the corresponding teeth for the affected patient.
Diagnosis and course
In the context of the diagnosis of amelogenesis imperfecta, it must be taken into account that there are numerous different manifestations of the disease. For this reason, a thorough medical history is particularly important. On the one hand, this can determine whether amelogenesis imperfecta is caused by a hereditary component. On the other hand, differentiation from other diseases of the teeth with similar symptoms is particularly relevant in order to be able to initiate adequate treatment. X-ray examinations can be used to determine whether the density of the enamel is reduced. As part of the differential diagnosis, other diseases must be ruled out. These include, for example, acquired enamel formation disorders or dentinogenesis imperfecta, which is an autosomal-dominant inherited structural disorder of tooth dentition (eruption of teeth from the jaw). Enamel dysplasia, which may be related to other diseases, must also be excluded. Symptoms similar to amelogenesis imperfecta are also seen in Turner tooth or dental fluorosis.
Complications
Amelogenesis imperfecta is a congenital defect that destroys tooth enamel. It is a rarely occurring disease and has various manifestations. A detailed anamnesis helps to avoid serious complications. Massive abrasion and tooth loss already occur in the milk teeth.Food intake becomes increasingly difficult, painful inflammations and fever make the child suffer and language acquisition can only be poorly developed. The teeth begin to chip, react hypersensitively to temperature differences and often the symptom is accompanied by growths on the gums and gingivitis. By means of differential diagnostics, the diagnosis is ensured and early therapeutic interventions are initiated. This method is especially important for young children, so that the dentition can develop in a functional way. The same applies to adults affected by tooth loss. Here, in addition to the loss of bite strength and bite height, the aesthetic aspect comes into play. The enamel density is measured on the basis of X-ray examination. Depending on the advanced stage, the teeth, and in children even the milk teeth, are fitted with strip or steel crowns or fillings made of plastic, all-ceramic or zirconium dioxide. In this way, they are preserved for as long as possible. Amelogenesis imperfecta can present the patient with a great deal of psychological and physical stress, but complications can be avoided if diagnosed in time.
When should you see a doctor?
Due to amelogenesis imperfecta, in most cases there is an increased formation of caries on the teeth. In most cases, the life of the affected person is not particularly limited by this disease if good oral hygiene is observed. However, regular check-ups and treatment at the dentist are necessary to prevent permanent damage to the teeth. As a rule, a doctor should be consulted when amelogenesis imperfecta causes caries on the teeth. In this case, a dentist must be consulted. Of course, the dentist should also be contacted for treatment of all other oral complaints. There is no spontaneous healing. Caries shows itself at the latest by pain in the affected teeth. This can be removed relatively easily and without complications, so that the affected person does not suffer from any further complaints. Above all, parents must teach their children good oral hygiene to avoid the development of caries.
Treatment and therapy
In the context of amelogenesis imperfecta, there is usually a strong and rapid abrasion of the teeth. For this reason, timely therapeutic intervention is always advisable. Due to the excessive wear of the teeth, the bite height of the patient is quickly reduced, which can lead to serious problems, for example, when crushing food. If milk teeth are affected by amelogenesis imperfecta, plastic fillings, steel crowns or strip crowns are frequently used methods. This allows the baby teeth to remain in place until they naturally fall out, allowing the child to eat regularly. Preservation of the milk teeth is also highly relevant for undisturbed speech development. In the case of amelogenesis imperfecta in adulthood, various types of crowns, for example with full ceramics or zirconium dioxide, can be used in addition to plastic fillings. In this case, therapy should be started in good time in order to limit serious damage. In addition, limitations can be eliminated early in this way. Teeth affected by amelogenesis imperfecta can be largely rehabilitated esthetically and functionally. This is particularly significant in view of the fact that amelogenesis imperfecta also represents a psychological burden for the affected patients in many cases. The soft enamel, which turns yellowish or brownish and wears away quickly, causes not only local discomfort but also impairment of the visual appearance of the individuals. This is especially true when the affected teeth are located in the front part of the dentition.
Outlook and prognosis
As a rule, amelogenesis imperfecta results in an increased risk of developing caries. As a result, the affected person’s teeth are often sensitive to pain and temperature, so there may be discomfort or pain when taking food or liquids. Likewise, this significantly reduces the patient’s quality of life and, in the worst case, can lead to tooth loss. Furthermore, those affected often suffer from inflammation of the tooth roots due to amelogenesis imperfecta. These must then be removed by medical intervention.This can also cause damage to the gums and the entire oral cavity. The affected person is then usually dependent on regular visits to a dentist to prevent further problems with the teeth. If amelogenesis imperfecta has already led to caries, the teeth must be filled or replaced by implants. This usually does not cause further discomfort or pain. As a rule, plastic fillings last a relatively long time, so that they do not have to be renewed again.
Prevention
Because amelogenesis imperfecta is an inherited dental disease, there are no effective measures for prevention. If there are signs that indicate amelogenesis imperfecta, such as visual or sensory symptoms, a dentist should be consulted immediately. This is of particular relevance for children with diseased milk teeth. Timely therapy can prevent complications and allow affected individuals to absorb and grind food largely undisturbed.
Aftercare
As a rule, the options for follow-up care in this disease are severely limited. In this case, the patient is primarily dependent on direct treatment by a physician to alleviate the symptoms of amelogenesis imperfecta and prevent further complications. Since amelogenesis imperfecta does not heal itself, treatment of this disease is essential. The life expectancy of the affected person is not negatively affected by the disease. As a rule, in the case of amelogenesis imperfecta, the patient is dependent on treatment by a dentist. In this case, early diagnosis is very useful to avoid further destruction and damage of the teeth. In severe cases, some teeth may need to be completely replaced to alleviate or completely limit the symptoms of amelogenesis imperfecta. The affected person should continue to observe the usual measures of dental hygiene and also pay attention to a healthy diet that does not attack the teeth. The dentist can also give tips on healthy oral hygiene. In most cases, amelogenesis imperfecta results in a positive course of the disease.
What you can do yourself
In the case of hereditary malformations (dysplasias) of the enamel, the best means of self-help is timely consultation with a dentist who is already experienced in the therapy of the disease, which is rather rare. Early treatment is especially important in children, as amelogenesis imperfecta is often accompanied by a loss of vertical jaw relation and eruption disorders of the teeth. In children, these symptoms can cause a disturbance in food intake and speech development. Pain while eating is quickly accompanied by malnutrition in children, which can negatively affect overall physical development. Difficulties with speech lead to social isolation. It is not uncommon for the social environment to wrongly suspect mental retardation. Parents should therefore ensure that amelogenesis imperfecta in their child is treated promptly and adequately. Professional treatment is also important for adults. The use of plastic covers and crowns can preserve the affected teeth for as long as possible. At the same time, the problem of severe discoloration of the enamel, which is only cosmetic but psychologically very stressful, can be eliminated. Other side effects of amelogenesis imperfecta, especially chronic gingivitis, can be prevented by scrupulous hygiene in dental care. Teeth should be carefully cleaned with a soft toothbrush after each meal. The toothbrush should be changed regularly and cleaned in between with boiling hot water.
