• Wednesday April 8,2020

Ichtyosis vulgaris

Ichtyosis vulgaris is a skin disorder that manifests itself in disorders of cornification. Ichtyosis vulgaris is a hereditary disease associated with symptoms such as dry and flaky skin. Ichtyosis vulgaris has either autosomal dominant or x-linked recessive inheritance.

What is Ichtyosis vulgaris?

The dryness of the skin results from a lack of the protein filaggrin. While the x-linked recessive variant of Ichtyosis vulgaris is usually found only in males, the autosomal dominant form is similar in both females and males.
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In principle, physicians distinguish two forms of Ichtyosis vulgaris according to the pattern of inheritance present. The autosomal dominant manifestation is the form of the most frequent ichthyosis vulgaris. The patients are affected by genetic mutations on the locus 1q21.

The corresponding gene domain is responsible for the coding of the protein filaggrin, which plays an important role in the formation of structures in the skin. Somewhat rarer is the x-linked recessive form of Ichtyosis vulgaris. Ichtyosis vulgaris is also known in colloquial terms as so-called fish scale disease.

The term refers to the typical appearance of the skin in the context of Ichtyosis vulgaris. It is estimated that more than 100, 000 people in Germany suffer from Ichtyosis vulgaris. The disease manifests itself especially in the winter season due to the cold temperatures.

For many people affected, Ichtyosis vulgaris represents a considerable emotional distress, as the patients feel the appearance of the skin as unaesthetic. Ichtyosis vulgaris manifests itself mainly in the area of ​​the legs and arms as well as on the trunk of the body. The scaly structure of the skin surface intensifies especially in the winter time.

In addition, the skin dries out severely due to the Ichtyosis vulgaris and tends to roughness and cracks. About a quarter of those affected also suffer from atopic dermatitis at the same time. Ichtyosis vulgaris is usually associated with itching in these individuals.

causes

Ichtyosis vulgaris is the result of genetic mutations. While the autosomal dominant expression of Ichtyosis vulgaris is due to gene mutations at locus 1q21, the mutant X-linked recessive form results from mutations on the X chromosome and locus 22.32. This area is responsible for the coding of an enzyme called steroid sulfatase.

The defect leads to errors in the production of the enzyme, so that skin build-up processes are disturbed. Basically, this form of Ichtyosis vulgaris manifests exclusively in male patients. Because men have only one X chromosome, while women have two pieces and thus only act as genetic carriers of Ichtyosis vulgaris, without even show symptoms.

Contact with water or moist air usually intensifies the symptoms of Ichtyosis vulgaris. Also irritating substances are to be avoided by those affected, as they aggravate the symptoms.

Symptoms, complaints & signs

The first manifestation of Ichtyosis vulgaris usually takes place in patients in infancy. The symptoms of Ichtyosis vulgaris continue to increase until pubertal growth, until stagnation and subsequent regression finally occur. Typical of the Ichtyosis vulgaris are a very dry skin with pronounced line pattern of the individual dander.

The dryness of the skin results from a lack of the protein filaggrin. While the x-linked recessive variant of Ichtyosis vulgaris is usually found only in males, the autosomal dominant form is similar in both females and males. Under normal circumstances, the skin permanently loses dandruff.

In the case of Ichtyosis vulgaris, however, the dandruff is long-term associated with the skin, as the degradation processes are impaired. Due to the reduced activity of the sebaceous glands, the skin appears dull and without shine. Basically, the severity of Ichtyosis vulgaris varies greatly from case to case. Mild forms of progression sometimes go completely unnoticed. In adult patients, the Ichtyosis vulgaris usually gradually forms.

Diagnosis & disease course

The diagnosis of Ichtyosis vulgaris is made by a dermatologist based on the typical signs and clinical examination methods. Anamnesis examines the history of Ichtyosis vulgaris and similar cases in the family. In the visual examination, the doctor registers the characteristic appearance of the skin with the characteristic dandruff pattern.

To ensure the diagnosis of Ichtyosis vulgaris, a molecular genetic examination of the patient is used. In this way, the doctor identifies the genetic defects on the corresponding genes, so that confusion with other skin diseases are almost impossible. Histological examinations of the skin areas affected by ichhtyosis vulgaris additionally support the diagnosis.

When should you go to the doctor?

A visit to a doctor is advisable as soon as skin abnormalities or changes in the appearance of the skin appear. As ichthyosis vulgaris is a congenital disorder, the peculiarities of the skin are often noticed immediately after birth by the obstetrician or later by the paediatricians. In many cases, therefore, the parents do not have to become active in this disease themselves, as a diagnosis is possible very early. For particularly dry skin and scaling of the skin layers, the observations should be discussed with a physician. If the skin pattern shows a line pattern or a special shine, this may be the indication of an existing disorder.

A screening of the skin and a blood test give information about the presence of the hereditary disease. If the changes in the skin increase in size or intensity, a doctor's visit should be made. If emotional problems occur due to the visual abnormalities, it is also advisable to consult a doctor. The visual blemish can cause mental distress. Therefore, a doctor should visit in time so that no mental illness develops. If it comes through the skin lesions to pain, a general malaise or mobility limitations, a doctor's visit is necessary. Sensory disorders, sensitivity changes or numbness of the skin require a doctor.

Treatment & Therapy

The causes of Ichtyosis vulgaris are not treatable, which is why the focus is on alleviating the symptoms. The patients usually get special creams that grease the skin and support the desquamation. An important role, for example, the supply of lactic acid, which supports the natural acid mantle of the skin. In addition, UV therapies and salt baths help with regular use.

Outlook & Forecast

Ichthyosis vulgaris usually takes a long course. The severity of the disease depends on its shape and the time of treatment. In severe cases, the affected child dies shortly after birth or during the first weeks of life.

In most cases, the symptoms develop within the first few months of life and reduce the quality of life and well-being of the child considerably. By early therapy, the symptoms and discomfort of the skin can be reduced so much that a relatively normal life is possible for those affected. Nevertheless, the patients must always be treated with medication, which means a further burden.

A mild ichthyosis vulgaris still promises a positive prognosis. Through a close-knit medical treatment, the suffering can be reduced so much that the affected person is granted a trouble-free life. The cause of the skin disease can not be treated. Therefore, there is always the risk that a seemingly conquered Ichthyosis vulgaris recurs.

The life expectancy is not reduced by the disease in so far as the child survives the first weeks of life without permanent damage. However, as a result of external changes, inferiority complexes and other emotional complaints may develop.

prevention

A causal prevention of Ichtyosis vulgaris is not possible. Patients avoid frequent skin contact with water and irritating substances. These measures should be taken into account, especially when choosing a career, and do not help unnecessarily increase the symptoms of Ichtyosis vulgaris. A regular medical check-up and a personalized treatment of Ichtyosis vulgaris usually show good results.

aftercare

In most patients Ichtyosis vulgaris has no special follow-up care. In the case of this disease, a diagnosis must be made very early by a doctor so that a further worsening of the symptoms can be prevented. In general, it can not come to a self-healing, so sufferers are definitely dependent on a visit to a doctor.

When Ichtyosis vulgaris intensive care of the skin is appropriate. The skin should be treated as often as possible with different creams and ointments to relieve the symptoms. In doing so, a high standard of hygiene must be observed so that the symptoms can be properly alleviated. Some sufferers are dependent on the use of various drugs due to the Ichtyosis vulgaris.

It is always important to ensure a correct dosage and also on the regular intake. In case of ambiguity or questions, a doctor should be consulted first. Furthermore, in Ichtyosis vulgaris support and help from one's own family or friends is very important, as it can also prevent mental upsets or depression.

You can do that yourself

Ichthyosis vulgaris must be medically clarified and treated. Accompanying the drug therapy, the sufferer may resort to some measures to alleviate the symptoms and prevent further progression of the skin disease.

The most important measure is the daily care of the skin. In the case of the disease, the skin must be bathed twice a day, carefully rubbed off and treated with a suitable care product. Suitable are, for example, urea-containing creams, but also natural creams of melissa or chamomile. As long as the skin is not inflamed, preparations containing vitamin A acid can also be used. Arsenicum album, Rhus toxicodendron and other homeopathic remedies support the treatment of ichthyosis vulgaris. Which means may be used, however, must always decide the responsible family doctor.

Regular check-ups are mandatory for ichthyosis vulgaris. In addition to the local therapy, a psychological treatment is usually useful. In conversation with a therapist, the person concerned learns to accept the skin changes and to overcome his social anxieties. Attending a support group supports psychological support and gives the affected person the opportunity to interact with other ichthyosis patients.


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