Diseases

ADULT Syndrome – Causes, Symptoms & Treatment

ADULT syndrome

ADULT syndrome is a genetically caused disease that occurs with a very low frequency on average. In principle, ADULT syndrome is passed on in an autosomal dominant manner. The name of the disease is an acronym that stands for A cro-Dermato-U ngual-L acrimal-T ooth syndrome.

What is ADULT syndrome?

ADULT syndrome was first described by propping in 1933. The long form of the disease designation refers to the areas of the body where abnormalities or malformations occur as part of the ADULT syndrome. These primarily include skin and nails as well as teeth and the tear system. Typical for the disease is dysplasia of the toenails and fingernails, strongly pronounced freckles, ectrodactyly, as well as blocked lacrimal glands.

In addition, hypodontia usually also appears, whereby the permanent teeth are usually lost in early age. In principle, ADULT syndrome is an enormously rare genetic disease. So far, the syndrome is known only in two families and 14 individual cases. ADULT syndrome is characterized by an autosomal dominant [hereditary disease| Heredity]].

Causes

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

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

Symptoms, complaints & signs

In the context of the ADULT syndrome, the affected persons suffer from a typical symptom. Basically, ectrodactyly, dysplasia of the nails and blocked tear ducts are among the most important symptoms of the disease. In addition, patients usually show characteristic changes in pigments on the skin, reminiscent of freckles. This symptom is also known as a so-called freckling.

Also in the area of the teeth usually occur in the ADULT syndrome abnormalities. So some teeth may be missing. In particularly severe cases, the person has no teeth. In addition, in patients with ADULT syndrome, exfoliative dermatitis is also possible, which manifests itself primarily in the area of the toes and fingers. The hair of people suffering from ADULT syndrome is blond and thinning 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 special genetic forms on the corresponding gene lead to the expression of the ADULT syndrome. If 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 symptoms differ considerably in the sick patients. Thus, in addition to mild forms of the syndrome, cases are also possible in which people have all sorts of symptoms.

For example, some affected patients show a cleft palate, a cleft foot or a cleft hand. Some individuals are highly photophobic and suffer from chronic blepharitis. There may also be symptoms such as blepharophimosisconjunctivitis or dacryocystitis.

Diagnosis & course

In order to make a reliable diagnosis of ADULT syndrome, numerous 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 toddlers show typical signs of the disease in the first years of life, a doctor should be consulted. First and foremost, the external anomalies are noticeable, for example in the area of the face. The pediatrician refers the patient to a specialized doctor who will take care of further diagnosis. At the beginning, he takes an anamnesis with the child’s parents and the patient himself and collects clues about the symptoms.

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

Complications

In ADULT syndrome, different complications can occur. These depend on the severity of the syndrome. In most cases, the patient has a relatively large number of freckles. These can be multiplied again in summer due to the increased UV radiation. However, the freckles themselves do not constitute a complaint.

Often the tear ducts of those affected are closed. This makes it impossible to cry. This has not only psychological, but also physical influences. Crying removes foreign bodies from the eye. If this cannot be done, it often ends in inflammation of the eye. Most of those affected are missing teeth.

Only some or even all teeth may be missing. This leads to teasing and bullying, especially in children, and can cause severe depression and other psychological problems in the patient. On the toes and fingers, increased dermatitis occurs. However, this can be treated relatively well.

The ADULT syndrome itself cannot 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 to go to the doctor?

Since ADULT syndrome is a genetic disease, it usually cannot be cured by a doctor. For this reason, only symptomatic treatment is possible, which should be carried out whenever there is pain or severe restrictions in the patient’s life. As a rule, the ADULT syndrome leads to pigmentation disorders. First and foremost, these do not pose a health risk and therefore do not necessarily have to be treated by a doctor.

Not infrequently, however, the pigment disorders lead to psychological complaints, in which treatment by a psychologist can take place. Likewise, treatment must be carried out due to the cleft palate. Since it is still not uncommon for a split foot to occur, this can also be corrected by surgery. Medical treatment is also necessary if it comes to further skin complaints, which can occur, for example, due to increased UV radiation. As a rule, the respective specialist can always be consulted directly to get immediate treatment.

Treatment & Therapy

Currently, a causal therapy of the ADULT syndrome is not possible, due to a lack of appropriate knowledge. Due to the rarity of ADULT syndrome, there is a lack of adequate research studies. Instead, patients are treated based on their symptoms.

With regard to the malformations of the teeth, for example, orthodontic treatment is used. In addition, patients usually receive dentures at an early stage.

Outlook & Forecast

The ADULT syndrome greatly reduces the patient’s quality of life and makes everyday life much more difficult. The complaints can be very different. In many cases, malformations occur on the nails and eyes. The skin is also affected by pigmentation disorders. These can lead to reduced self-esteem. Often a cleft palate occurs, which can be associated with speech disorders.

The feet are also affected by malformations, so in some cases there may be movement restrictions. If necessary, the patient is dependent on the help of other people in everyday life in order to master everyday life.

It is not possible to treat ADULT syndrome, so only symptoms can be limited. This is usually done through surgical interventions and various therapies. In most cases, however, life expectancy is reduced by the ADULT syndrome.

With early treatment of symptoms, everyday life can be normalized in adulthood. The development of and mental abilities is usually not affected by ADULT syndrome.

Prevention

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

Aftercare

Since ADULT syndrome is a genetic disease, the possibilities of follow-up care for this disease are relatively limited. The affected person is therefore primarily dependent on the early diagnosis and treatment of the disease, so that it does not lead to further complaints or complications. Since this is a genetic disease, genetic counseling can also be very useful to clarify the extent to which the disease can be prevented from being passed on to the offspring.

This may prevent the recurrence of ADULT syndrome. In most cases, the treatment is carried out by surgical intervention of an orthopedist. There are usually no special complications, whereby the procedure itself depends on the exact malformations on the teeth and their severity.

The procedure should be carried out very early, so that there are no complaints in the development of the child. In many cases, those affected are also dependent on the psychological support of friends or their own family, so that it does not come to moods or depression. A psychologist can also be consulted in serious cases. The syndrome itself, as a rule, does not reduce the life expectancy of the patient.

What you can do yourself

Since the ADULT syndrome is a very rare disease, there are few reports of experience to be able to give a comprehensive overview of possible self-help. Those affected should find out as much as possible about the disease, its course and complications. This helps to avoid finding yourself unprepared in awkward situations. If possible, information should be exchanged with other patients. Helpful hints and tips can be used by them. This strengthens one’s own self-confidence and reduces helplessness.

In everyday life, it is particularly helpful if the patient surrounds themselves with people who give them stability and security. A good social network increases well-being and increases zest for life. Social isolation can lead to Depressive moods and other mental illnesses.

As soon as the person concerned experiences life-threatening fears or panic attacks , it is advisable to seek help from a Therapist in good time . Together with him, he can develop behavioral strategies that he can ultimately use independently in everyday life in order to be able to cope with his life with fewer symptoms.

Despite the illness, participation in social activities is possible. The person concerned should pursue this with self-confidence. A stable self-esteem will enable him to enjoy life against all odds.

Lisa Newlon
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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.