Ectodermal dysplasia is a group of genetic malformations of tissues and body parts that arise from the ectoderm. The common abbreviation of ectodermal dysplasia is ED. The term stands for a variety of diseases and pathological disorders, especially of the nails, hair, skin, sweat glands and teeth. Ectodermal dysplasia occurs, for example, in Ellis-van Creveld syndrome, Christ-Siemens-Touraine syndrome, Hay-Wells syndrome, and Goltz-Gorlin syndrome.
What is ectodermal dysplasia?
Ectodermal dysplasia summarizes various diseases and pathological phenomena that result from a disorder of the ectoderm. This is the so-called outer cotyledon. The ectoderm is the origin of various components and tissues of the body, such as hair, nails and teeth. Ectodermal dysplasia is divided into two categories. In type 1, the affected individuals suffer from abnormalities in at least two different elements that originate from the ectoderm. Type 2 of ectodermal dysplasia manifests itself in malformations of teeth, nails or hair and an additional anomaly of other body parts such as lips, ears or soles of the feet. Generally, the causes of ectodermal dysplasia are genetic, so that the disease is fixed in patients from birth. The possibilities of inheritance are different and vary from case to case. Autosomal dominant, x-linked dominant and recessive inheritance are possible. The prevalence of ectodermal dysplasia is estimated to be about 7:10,000. To date, more than 150 different manifestations of the disease are known. Ectodermal dysplasia is associated with a variety of pathological syndromes. These include, for example, Limb Mammary Syndrome, Rosselli-Gulienetti Syndrome, Ladda-Zonana-Ramer Syndrome, and Rapp-Hodgkin Syndrome. Ectodermal dysplasia also occurs in various forms in Zlotogora-Ogur syndrome, oligodontia cancer predisposition syndrome, and hypotrichosis with juvenile macular dystrophy.
Causes
Based on the responsible genetic mutations, ectodermal dysplasia can be divided into diverse groups. According to the present mode of inheritance, different syndromes result in which ectodermal dysplasia manifests. In x-linked inheritance, ectodermal dysplasia occurs, for example, in Christ-Siemens-Touraine syndrome. The autosomal recessive type is present, for example, in Clouston syndrome or Halal-Setton-Wang syndrome.
Symptoms, complaints, and signs
In the context of ectodermal dysplasia, diseased individuals suffer from multiple malformations of structures whose origin is in the outer cotyledon. Thus, the term “ectodermal dysplasia” is considered a collective term for various diseases that are genetically determined and manifest themselves in diverse syndromes. Depending on the disease syndrome, ectodermal dysplasia manifests itself in different symptoms. However, most syndromes have in common that disorders of the nails, hair, sweat glands or skin are present. Sometimes the abnormalities also affect the soles of the feet or lips, such as in cleft lip and palate. Ectodermal dysplasia causes patients to have congenital malformations, for example, of the teeth or fingernails and toenails. Typical diseases in which ectodermal dysplasia occurs include Hay-Wells syndrome, pachyonychia congenita, Naegeli syndrome, AREDYLD syndrome, ANOTHER syndrome, and OLEDAID syndrome. In addition, ectodermal dysplasia sometimes manifests in Sensenbrenner syndrome, Basan syndrome, CHIME syndrome, and Setleis syndrome. In addition to malformations of structures such as nails or teeth, ectodermal dysplasia may also cause other conditions. For example, some individuals suffer from hearing loss, blindness, and below-average intellectual abilities. In some cases, malformations of the central nervous system or natal teeth occur. In some individuals, ectodermal dysplasia manifests as McGrath syndrome, EEM syndrome, Stoll-Alembik-Finck syndrome, tooth-hair-nail-finger-palma syndrome, and Schöpf-Schulz-Passarge syndrome. In addition, corresponding disorders occur in cranioectodermal as well as odonto-onycho-hypohidrotic dysplasia with malformations of the scalp.Typical disorders of ectodermal dysplasia are also expressed in tricho-oculo-dermo-vertebral syndrome, cerebellar ataxia, and hypohidrotic ectodermal dysplasia with immunodeficiency.
Diagnosis
The diagnosis of ectodermal dysplasia is usually made by different specialists working together. This is because the affected parts of the body are often very different, for example, when there are simultaneous malformations of the skin and teeth. Since ectodermal dysplasia is an umbrella term for numerous syndromes, it is often difficult to assign it to the respective disease syndrome. This is because the symptoms are sometimes similar, but always different enough to form independent syndromes. It is important to perform a genetic analysis of the patients’ DNA in order to identify the gene mutations present. Knowledge of the respective mode of inheritance also facilitates assignment to the corresponding syndrome.
Complications
Ectodermal dysplasia results in a wide variety of malformations on the body, which can complicate the patient’s daily life and lead to complications in the process. Most commonly, there are disorders of the sweat glands and hair. Likewise, malformations of the teeth and nails can occur, leading to severe pain. In addition, the affected person sometimes suffers from reduced self-esteem, since the malformations are visually conspicuous. In most cases, blindness and hearing loss also occur in the course of life, so that the affected person is dependent on the help of other people and cannot cope with everyday life alone. As a rule, there is also reduced intelligence and thus retardation. Due to the immunodeficiency, the affected person falls ill more frequently with influenza and other infections. It is not possible to carry out a causal treatment of the disease. If hair loss occurs, wigs can be used. Other deformities are corrected by surgical interventions and cosmetic treatments. However, it is not possible to treat or prevent deafness and blindness. The quality of life decreases greatly due to the disease. In addition to the patient himself, the parents are also severely burdened by psychological problems.
When should you go to see a doctor?
In case of ectodermal dysplasia, close monitoring by the doctor is always necessary. If the deformities cause pain, deformities, and other problems, the appropriate medical professional should be consulted. If signs of a secondary condition appear, a specialist must be consulted with the child to clarify or rule out the suspicion. Conditions such as blindness, hearing loss or mental underdevelopment must be presented to the appropriate specialist. If an accident occurs due to the ailments of ectodermal dysplasia, the ambulance service must be called immediately. In case of less serious complications, the emergency medical service can be asked for advice first. In the long term, cosmetic and surgical options should be discussed with the attending physician to correct the deformities. Depending on the symptoms present, various cosmetic and surgical procedures may be considered. For example, severe malformations of the teeth can be treated orthodontically, while disorders of the scalp hair can be concealed by wigs. Alone to discuss these measures should be regularly consulted with the doctor.
Treatment and therapy
A causal therapy of ectodermal dysplasia is not yet practicable at the present time. This is because the various syndromes are genetic defects over which medicine currently has no control. However, there are numerous symptomatic treatment options for ectodermal dysplasia, depending on the syndrome present. For example, numerous deformities can be eliminated or alleviated by cosmetic and surgical procedures. In the case of severe deformities of the teeth, for example, orthodontic treatment is performed. In the case of defects of the nails, surgical procedures can be considered. Disturbances in the growth of the hair on the head can usually be concealed by means of wigs.
Outlook and prognosis
All forms of ectodermal dysplasia are chronic diseases. Therefore, there is no cure possible. What the further prognosis looks like depends mainly on the type of ectodermal dysplasia. The course of the disease is basically dependent on both environmental influences and certain genetic factors.However, if affected individuals are treated quickly and adequately in infancy and early childhood, a normal life expectancy is possible, at least for most forms of ectodermal dysplasia. However, if severe respiratory infections, periods of overheating, or other serious complications occur in early childhood, certain limitations and developmental delays may result. For example, an early state of overheating in which the appropriate countermeasures were not taken quickly enough can result in brain damage, which can subsequently result in delays in mental and/or motor development. Depending on the surgical procedures performed during childhood, dentomaxillary anomalies may require further oral surgical treatment in adulthood. Regardless, affected individuals do not have to live with any further limitations in adulthood.
Prevention
Ectodermal dysplasia cannot yet be causally prevented with the current state of medical knowledge. Nevertheless, with the help of therapeutic measures adapted to the individual case, many patients achieve a high quality of life.
Follow-up
In this disease, measures or options for aftercare usually prove to be relatively difficult or even impossible. First and foremost, this requires rapid and, above all, early detection and diagnosis of the symptoms, so that further complications or a further worsening of the symptoms can be avoided. It is also not possible for the disease to heal itself, so that early diagnosis always has a positive effect on the further course of the disease. Since this disease also has a genetic cause, genetic testing can also be performed if the patient wishes to have children. This may prevent the disease from being passed on to the children. The treatment of this disease is done with the help of surgical interventions. After such operations, the affected person should in any case relax and take care of his body. It is recommended to refrain from stressful activities. If there is any discomfort in the nails or hair, a doctor should be consulted immediately for prompt treatment. This disease does not negatively affect the life expectancy of the affected person.
What you can do yourself
Patients with hyperthermia must be careful in their daily environment not to get into situations where they are exposed to uncontrolled heat. Therefore, it is recommended that affected individuals not only wear special cooling vests and caps, but also generally consider living in climatically more favorable regions that are characterized by a year-round absence of heat peaks. Regular hydration of cooling drinks as well as wearing damp clothing can nevertheless contribute to welcome cooling even in warmer regions. Regular cold showers, avoidance of sports in childhood and regular use of moisturizing eye drops are only a few of many measures in everyday life that lead to noticeable alleviation of the symptoms. The high rate of dental malformations can be counteracted by appropriate aesthetic rehabilitation measures with the help of dentures. Correction of frequently associated jaw malpositions leads to clearer pronunciation, improved chewing behavior and a visually enhanced appearance, which in turn results in improved quality of life. Speech therapy can effectively treat the speech and articulation disorders often associated with ectodermal dysplasia and help increase self-esteem and social competence. In order to stabilize oneself psychologically and to gain a maximum of quality of life in spite of all the impairing symptoms of the disease, some self-help groups offer assistance in the daily handling of the disease as well as exchange with people who are also affected.
