ADULT syndrome is a genetically-caused disease that, on average, only occurs at a very low frequency. In principle, the ADULT syndrome is transmitted in an autosomal dominant manner. The name of the disease is an acronym that stands for A cro-D ermato-U ngual-L-Max-Thoth syndrome.

What is the ADULT syndrome?

ADULT syndrome is a genetically-caused disease that, on average, only occurs at a very low frequency.

ADULT syndrome was first described in 1933 by propping. The long form of the disease name refers to the areas of the body where anomalies or malformations occur in the context of ADULT syndrome. These include primarily skin and nails as well as teeth and the teardrop system. Typical for the disease is a dysplasia of the toenails and fingernails, pronounced freckles, an ectrodactyly and clogged lacrimal glands.

In addition, a hypodontia usually shows, with the permanent teeth are usually lost in early life. In principle, the ADULT syndrome represents an enormously rare genetic disease. So far, the syndrome is only known in two families and 14 individual cases. The ADULT syndrome is transmitted via an autosomal-dominant [hereditary disease | hereditary trait]].

causes

ADULT syndrome is an extremely rare disease. The prevalence of ADULT syndrome is estimated to be around 1: 1, 000, 000. ADULT syndrome is a hereditary disease whose causes are found in genetic mutations. The disease is inherited autosomal dominant. The underlying gene mutation is found on the so-called TP63 gene.

Specifically, the locus 3q28 is affected. This locus is responsible for coding a particular protein, which is a factor in transcription. He plays an important role in the formation of limbs and tissues of nails and hair. Genetic mutations at this locus usually result in malformations in the affected individuals.

Symptoms, complaints & signs

As part of the ADULT syndrome sufferers suffer from a typical symptoms. Basically, an ectrodactyly, a dysplasia of the nails and clogged tears are among the most important symptoms of the disease. In addition, the patients usually show characteristic changes in the pigments on the skin reminiscent of freckles. This symptom is also known as Freckling.

Also in the field of teeth, anomalies usually occur in ADULT syndrome. So some teeth may be missing. In particularly severe cases, the person has no teeth. In addition, in patients with ADULT syndrome also exfoliative dermatitis is possible, which is primarily in the area of ​​the toes and fingers. The hairs of people with ADULT syndrome are blond and sparse in the majority of cases. Eyelashes and eyebrows are underdeveloped.

In principle, the ADULT syndrome is a so-called allelic disease. This means that only specific genetic forms on the corresponding gene lead to the development of ADULT syndrome. When other gene loci are affected by the mutations, other types of diseases usually develop.

For example, Hay-Wells syndrome, EEC syndrome, SHFM4 and Rapp-Hodgkin syndrome are possible. Depending on the severity of the ADULT syndrome, the discomfort of diseased patients varies considerably. Thus, in addition to mild forms of the syndrome, cases are also possible in which the persons have all sorts of symptoms.

For example, some of the affected patients show a cleft palate, a split foot or a split hand. Some people are very photophobic and suffer from chronic blepharitis. You may also experience symptoms such as blepharophimosis, conjunctivitis or dacryocystitis.

Diagnosis & History

In order to provide a reliable diagnosis of ADULT syndrome, many medical examinations are usually necessary. In most cases, the diagnosis of the disease extends over a relatively long period of time. This is mainly due to the fact that ADULT syndrome is a very rare disease.

If newborn infants or young children show typical signs of the disease during the first years of life, a doctor should be consulted. First of all, the external anomalies are noticeable, for example in the area of ​​the face. The pediatrician refers the patient to a specialist doctor who will take care of the further diagnosis. At the beginning, he makes an anamnesis with the parents of the child and the patient himself and collects information on the symptoms.

The suspicion of the existence of a hereditary disease usually falls quickly. Various visual examinations of the patient significantly limit the spectrum of possible diseases. In addition, examination methods such as X-ray techniques and other imaging methods are used. In this way, for example, the malformations of the dentition are already detectable in infants.

complications

Different complications can occur in ADULT syndrome. These depend on the severity of the syndrome. In most cases, the patient has relatively many freckles. These can be multiplied again in the summer by the increased UV radiation. The freckles themselves are not a complaint.

Often, the tears of those affected are closed. It is not possible to cry. This not only has mental but also physical effects. Crying removes foreign matter from the eye. Failure to do so often results in eye inflammation. Most sufferers lack teeth.

Only a few or even all teeth can be missing. This leads to teasing and bullying, especially in children, and can cause severe depression and other mental health problems for the patient. Dermatitis increases on the toes and fingers. However, this can be treated relatively well.

The ADULT syndrome itself can not be treated or prevented because it is inherited. However, the symptoms that occur with this syndrome can be treated. This increases the life expectancy of the patient and makes his everyday life easier.

When should you go to the doctor?

As the ADULT syndrome is a genetic disease, it usually can not be cured by a doctor. For this reason, only symptomatic treatment is possible, which should always take place when it comes to pain or severe restrictions in the life of the patient. As a rule, it comes through the ADULT syndrome to pigmentary disorders. These are primarily not a health hazard and therefore do not necessarily have to be treated by a doctor.

It is not uncommon for the pigmentary disorders, however, to mental discomfort, in which a treatment by a psychologist can take place. Likewise, due to the cleft palate, a treatment must be performed. Since it is not unusual for a gap foot, this can also be corrected by an intervention. A medical treatment is also necessary if it comes to further skin complaints that may occur, for example, by increased UV radiation. As a rule, the respective specialist can always be consulted directly for immediate treatment.

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Treatment & Therapy

At present, a causal therapy of ADULT syndrome is not possible, since adequate knowledge is lacking. Due to the rarity of the ADULT syndrome, adequate research studies are lacking. Patients are treated for their symptoms instead. With regard to the malformations of the teeth, for example, an orthodontic treatment is used. In addition, the patients usually get a denture early.

Outlook & Forecast

Due to the ADULT syndrome, the quality of life of the patient is extremely reduced and everyday life is made much more difficult. The complaints can be very different. In many cases, malformations of the nails and eyes occur. The skin is also affected by pigmentary disorders. These can lead to decreased self-esteem. Often, a cleft palate occurs, which may be associated with speech disorders.

The feet are also affected by malformations, so it can come in some cases to movement restrictions. If necessary, the patient is dependent on the help of other people in everyday life, in order to master the daily routine.

It is not possible to treat the ADULT syndrome so only the symptoms can be reduced. This is usually done through surgical procedures and various therapies. Mostly the life expectancy is reduced by the ADULT syndrome nevertheless.

Early treatment of symptoms can normalize everyday life in adulthood. The development of motor skills and mental abilities usually remains unaffected by the ADULT syndrome.

prevention

At the present time it is not yet possible to prevent the ADULT syndrome. For one, the hereditary disease is not sufficiently researched, on the other hand, there is a general lack of experience in the prevention of genetic diseases and the corresponding mutations.

aftercare

Since ADULT syndrome is a genetic disease, the options for follow-up in this disease are relatively limited. The person concerned is therefore primarily dependent on the early diagnosis and treatment of the disease so that it does not lead to further complaints or further complications. Since this is a genetic disease, genetic counseling can be very useful to clarify to what extent a transmission of the disease to the offspring can be prevented.

This may prevent recurrence of the ADULT syndrome. In most cases, the treatment is performed by an orthopedic surgeon. There are usually no particular complications, with the procedure itself being directed at the exact malformations on the teeth and their expression.

The intervention should be done very early, so that it does not come to complaints in the development of the child. In many cases, people are also dependent on mental support from their friends or family so that they do not get upset or depressed. Even a psychologist can be visited in serious cases. The syndrome itself does not usually reduce the life expectancy of the patient.

You can do that yourself

Since the ADULT syndrome is a very rare disease, there are so far a few reviews to give a comprehensive overview of the possible self-help. Patients should be informed as much as possible about the disease, its course and complications. This helps to avoid finding yourself unprepared in unpleasant situations. If possible, there should be an exchange of information with other patients. Helpful hints and tips can be used by them. This strengthens one's self-confidence and reduces helplessness.

In everyday life, it is particularly helpful if the sick person surrounds with people who give him stability and security. A good social network increases well-being and increases the joy of life. Social isolation threatens depressive moods and other mental illnesses.

Once the sufferer experiences life-threatening anxiety or panic attacks, it is advisable to seek timely help from a therapist. Together with him, he can develop behavioral strategies that he can use independently in everyday life in order to be able to handle his life without complaining.

Despite the illness participation in social activities is possible. This person should pursue this with self-confidence. Through a stable self-esteem, he will be able to enjoy life despite adversity.

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