Naegeli syndrome is a genetic disease. Naegeli syndrome is also known as Naegeli-Franceschetti-Jadassohn syndrome and is abbreviated as NFJ. Naegeli syndrome is extremely rare in the general population. Basically, Naegeli syndrome is a skin disease characterized by pigment dermatosis of anhydrotic reticular type. The term disease is derived from the dermatologist Naegeli.
What is Naegeli Syndrome?
Naegeli syndrome is a rare, hereditary skin disease. It belongs to a specific category of pigment dermatoses. Naegeli syndrome was first scientifically identified and described in 1927. The Swiss dermatologist Naegeli, after whom the disease was later named, plays a central role. See psyknowhow for Kanner Syndrome Explained.
The doctor identified Naegeli syndrome in a family. Both the father and the two daughters were affected by the skin disease, so Naegeli made a comprehensive medical description. In 1954, the same family participated in another research study on Naegeli syndrome. The physicians Franceschetti and Jadassohn were essentially involved here. The two physicians discovered that Naegeli syndrome is inherited in an autosomal dominant manner.
In principle, the Naegeli syndrome is one of the most rarely occurring diseases. Because according to the current state of research regarding the disease, Naegeli syndrome has only been diagnosed in five families and their subsequent generations. The disease is found to be equally common in female and male patients.
Causes
The triggers for Naegeli syndrome lie in the genes of the affected person. A specific genetic mutation on the 17th chromosome is responsible for the later manifestation of Naegeli syndrome. The gene defect is located exactly on the gene called KRT14, which is related to the substance keratin. Naegeli syndrome is inherited in an autosomal dominant manner in the offspring of affected individuals.
Symptoms, Ailments & Signs
Typical of the Naegeli syndrome are special changes and anomalies of the skin. For example, the complete absence of fingerprints is particularly characteristic of Naegeli syndrome. In addition, the skin surface on the whole body is characterized by a special hyperpigmentation.
Its shape is reminiscent of a network structure. However, this phenomenon progressively recedes as people with Naegeli syndrome get older. Another widespread symptom is the affected person’s inability to excrete sweat from the body through the skin and sweat glands.
Even with correspondingly high air temperatures, the sick patients are not able to sweat. This phenomenon is known in medicine as anhidrosis and is the most complicated symptom of Naegeli syndrome. In addition, those affected usually lose all their teeth.
This tooth loss occurs in the majority of patients in childhood or adolescence. In connection with this, anomalies can be observed on the so-called dentin of the patients. In addition, some people develop blisters on the skin.
The nails of the toes may be deformed. However, all the symptoms of Naegeli syndrome decrease with age. Numerous symptoms of the Naegeli syndrome show parallels to those of the Bloch-Sulzberger syndrome, which is why a corresponding differential diagnosis is urgently needed.
Diagnosis & course of disease
The diagnosis of Naegeli syndrome is carried out by a specialist doctor and usually takes place in a specialist medical center in view of the genetic causes and the rarity of the disease. At the beginning, an anamnesis is necessary, in which the attending doctor takes the patient’s medical history and analyzes the present symptoms.
Taking a family history is particularly important for the diagnosis of Naegeli syndrome, since this way you can quickly find indications of the existing disease. After the first consultation with the patient, the specialist examines the sick person using clinical examination methods. In addition to a general visual examination, the skin of the affected person is examined in particular.
In many cases, the doctor takes samples of specific areas of the skin and arranges for the tissue to be examined in a laboratory. The abnormalities in the teeth are usually examined by dentists and orthodontists. For this purpose, people affected by Naegeli syndrome usually undergo an X- ray examination.
In order to complete the diagnosis of Naegeli syndrome, a genetic analysis of the person’s DNA is usually carried out. In this way, the Naegeli syndrome can be identified with certainty. In addition, a differential diagnosis is required for Naegeli syndrome, whereby the doctor distinguishes the disease from, for example, epidermolysis bullosa simplex and dermatopathia pigmentosa reticularis. Bloch-Sulzberger syndrome must also be ruled out.
Complications
In most cases, those affected by Naegeli syndrome suffer from various skin complaints. The fingerprints are completely missing, and as a rule there are no special complications in everyday life for the person concerned. Hyperpigmentation can also occur, so that those affected are often ashamed of this symptom and feel uncomfortable with it.
This can cause inferiority complexes that affect the quality of life. Likewise, those affected cannot sweat, so that the heat cannot be properly dissipated during physical exertion. This syndrome also often causes various problems with the teeth, so that those affected lose their teeth completely.
Blisters can also form on the skin. In many cases, those affected suffer from bullying and teasing, especially in childhood. Due to the loss of a tooth, the patient is usually no longer able to eat normally. A causal treatment of this disease is usually not possible. There are no special complications in the treatment of the symptoms themselves.
When should you go to the doctor?
When skin abnormalities and hyperpigmentation appear, it is a clear indication of a serious condition. A doctor must determine whether this is due to Naegeli syndrome or another disease and start treatment if necessary. If other symptoms such as a rapid deterioration in dental health or the development of skin blisters are noticed, the family doctor must be informed. Since Naegeli syndrome is a hereditary condition, it should be diagnosed in childhood.
Parents who notice such symptoms in their child are best advised to consult their family doctor or a specialist. In later life, the child must be closely monitored by a doctor, as the disease is always associated with complications. People who suffer from the disease themselves should arrange for a genetic test to be carried out during pregnancy in order to obtain certainty about the health of the child. The treatment is carried out by a dermatologist as well as internists, surgeons and specialists in the respective condition.
Treatment & Therapy
Naegeli syndrome is genetic, making effective treatment of the causes impractical. However, medical research is working on ways to prevent and treat hereditary diseases. Thus, all technical treatment measures of the Naegeli syndrome concentrate on the patient’s complaints.
In most cases, the changes in the skin improve as the person ages. Tooth loss can be largely compensated for by orthodontic measures and dentures.
Outlook & Forecast
The prognosis for Naegeli syndrome depends on the symptoms. Individual complaints such as anhidrosis and deformation of the toenails can cause problems over a longer period of time. The patients suffer from reduced well-being and often feel socially excluded due to their illness. As a result of the physical changes, inflammation can also occur, which further worsens the prognosis.
After tooth loss, eating is more difficult and patients often develop deficiency symptoms or become dehydrated. As a result of the inflammatory skin diseases, itching or pain can occur. This is often accompanied by an increase in the patient’s mental stress because they are excluded due to the external changes.
Very rarely, chronic complaints can develop from the skin diseases. Typical are eczema or fistulas, which worsen the prospect of a full recovery. The prognosis is correspondingly difficult, since both the disease itself and the symptoms and their consequences reduce the quality of life. Life expectancy is not necessarily restricted. The responsible physician provides the exact prognosis. Patients suffering from Naegeli syndrome need comprehensive treatment in order to achieve a better prognosis.
Prevention
There are no options to prevent Naegeli syndrome. The disease is inherited in an autosomal dominant manner via the parents to the offspring, so that part of the daughter generations show the Naegeli syndrome in the phenotype. In principle, however, the prognosis for Naegeli syndrome is positive, since the symptoms subside over the course of life.
Aftercare
In most cases, those affected with Naegeli syndrome have only very few and usually only very limited aftercare measures available. For this reason, the affected person should consult a doctor very early on, so that the occurrence of other complications and symptoms can be prevented. Since this is a genetic disease, a complete cure is usually not achievable.
If the person concerned wishes to have children, they should undergo genetic testing and counseling to prevent the syndrome from reoccurring. In most cases, those affected themselves are dependent on taking various medications. It is always important to ensure that it is taken regularly and that the dosage is correct in order to permanently relieve the symptoms.
In the event of side effects or if anything is unclear, a doctor should be contacted first. Skin complaints can be alleviated relatively well with the help of special creams or ointments. Regular check-ups and examinations by a doctor are also necessary. As a rule, Naegeli syndrome does not reduce the patient’s life expectancy. Further aftercare measures are not available to the person concerned.
You can do that yourself
Since the Naegeli syndrome is a genetic disease, the individual complaints can only be treated symptomatically. The patient can take some measures himself to support the medical treatment.
First of all, it is important to pay attention to strict personal hygiene. Brushing your teeth regularly can at least delay the loss of your teeth. In addition, the health of the toes can be maintained by regularly cleaning them carefully and treating them with medicinal products. The doctor can answer which measures are useful here in detail with regard to the stage of the disease. The visible changes in the skin can at best be counteracted by wearing covering clothing. Treatment of hyperpigmentation is not possible, which is why the doctor will recommend a therapeutic consultation to avoid the development of psychological problems.
Affected people who are already suffering severely from the psychological effects of Naegeli syndrome should also consult a self-help group and talk to other affected people. Should blisters form or other complications occur, further self-help measures should be avoided. The doctor must be informed so that medical treatment can be initiated quickly.
