Ichtyosis vulgaris is a disease of the skin that manifests itself in disorders of keratinization. Ichtyosis vulgaris represents a hereditary disease associated with symptoms such as dry and scaly skin. In ichtyosis vulgaris, there is either an autosomal-dominant or an x-linked recessive inheritance.
What is ichthyosis vulgaris?
In principle, physicians distinguish between two forms of ichtyosis vulgaris according to the pattern of inheritance present in each case. The autosomal dominant form is the form of ichthyosis vulgaris that occurs with the greatest frequency. Patients are affected by genetic mutations on gene locus 1q21. The corresponding gene region is responsible for the coding of the protein filaggrin, which plays an important role in the formation of structures in the skin. Somewhat less frequently, the x-linked recessive form of ichtyosis vulgaris occurs. Ichtyosis vulgaris is also colloquially known as fish scale disease. The term refers to the typical appearance of the skin in ichthyosis vulgaris. In Germany, it is estimated that more than 100,000 people suffer from ichthyosis vulgaris. The disease manifests itself particularly in the winter season as a result of cold temperatures. For many of those affected, ichthyosis vulgaris represents a considerable psychological strain, as the sufferers perceive the appearance of the skin as unaesthetic. Ichtyosis vulgaris mainly appears 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, ichtyosis vulgaris causes the skin to dry out considerably and tends to become rough and cracked. About a quarter of those affected also suffer from neurodermatitis at the same time. In these individuals, ichtyosis vulgaris is usually accompanied by itching.
Causes
Ichtyosis vulgaris develops as a result of genetic mutations. While the autosomal dominant expression of ichtyosis vulgaris develops from gene mutations on locus 1q21, the x-linked recessive inherited form results from mutations on the X chromosome and gene locus 22.32. This region is responsible for coding an enzyme called steroid sulfatase. The defect leads to errors in the production of the enzyme, so that skin build-up processes are disturbed. In principle, this form of ichthyosis vulgaris manifests itself exclusively in male patients. This is because men have only one X chromosome, whereas women have two and thus act merely as genetic carriers of ichthyosis vulgaris without showing any symptoms themselves. Contact with water or humid air usually intensifies the symptoms of ichthyosis vulgaris. Skin-irritating substances should also be avoided by those affected, as they aggravate the symptoms.
Symptoms, complaints, and signs
The initial manifestation of ichtyosis vulgaris usually occurs in patients as young children. Until the pubertal growth phase, the symptoms of ichtyosis vulgaris increase continuously until finally stagnation as well as subsequent regression occur. Typical for ichthyosis vulgaris is a very dry skin with a strongly pronounced line pattern of the individual skin scales. The dryness of the skin results from a deficiency of the protein filaggrin. While the x-linked recessive variant of ichtyosis vulgaris usually occurs only in males, the autosomal dominant form is seen in both females and males. Under normal circumstances, the skin permanently loses scales. However, in ichtyosis vulgaris, the scales are associated with the skin for a long time because the degradation processes are impaired. Due to the reduced activity of the sebaceous glands, the skin appears dull and lacks luster. Basically, the severity of ichthyosis vulgaris varies greatly from case to case. Mild forms of the disease sometimes go completely unnoticed. In adult patients, ichtyosis vulgaris usually gradually regresses.
Diagnosis and course of the disease
The diagnosis of ichtyosis vulgaris is made by a dermatologist based on the typical signs and clinical examination methods. The medical history explores the previous course of ichtyosis vulgaris as well as similar cases in the family. During the visual examination, the physician registers the characteristic appearance of the skin with the characteristic scale pattern.To confirm the diagnosis of ichthyosis vulgaris, a molecular genetic examination of the patient is used. In this way, the physician identifies the genetic defects on the corresponding genes, so that confusion with other skin diseases is virtually excluded. Histological examinations of the skin areas affected by ichthyosis vulgaris further support the diagnosis.
When should one go to the doctor?
A visit to the doctor is advisable as soon as skin abnormalities or changes in the skin appearance become apparent. Since ichthyosis vulgaris is a congenital disorder, the peculiarities of the skin are often noticed by obstetricians immediately after birth or by pediatricians later in life. In many cases, therefore, parents do not have to take action themselves in the case of this disorder, as diagnosis is possible at a very early stage. In the case of particularly dry skin and scaling of the skin layers, the observations should be discussed with a physician. If the skin shows line patterns or a particular sheen, these may be indications of a disorder present. A visual inspection of the skin as well as a blood test will provide information about the presence of the hereditary disease. If the changes in the skin increase in extent or intensity, a visit to the doctor should be made. If emotional problems set in due to the visual abnormalities, it is also advisable to consult a doctor. The optical blemish can cause emotional suffering. A doctor should therefore be consulted in good time to prevent mental illness from developing. If the skin changes cause pain, a general feeling of discomfort or restrictions in mobility, a visit to the doctor is necessary. In the case of sensory disturbances, influences on sensitivity or a feeling of numbness on the skin, a doctor is needed.
Treatment and therapy
The causes of ichtyosis vulgaris are not treatable, which is why the focus is on alleviating the symptoms. For this purpose, patients are usually given special creams that lubricate the skin and support desquamation. An important role is played, for example, by the supply of lactic acid, which supports the skin’s natural acid mantle. In addition, UV therapies as well as salt baths help when used regularly.
Outlook and prognosis
Ichthyosis vulgaris usually takes a protracted course. The severity of the disease depends on its form and when treatment is started. In severe cases, the affected child dies shortly after birth or in the first weeks of life. In most cases, the symptoms develop within the first months of life and significantly reduce the child’s quality of life and well-being. With early therapy, the symptoms and discomfort of the skin can be reduced to such an extent that a relatively normal life is possible for those affected. Nevertheless, sufferers must always be treated with medication, which means a further burden. Mild ichthyosis vulgaris nevertheless promises a positive prognosis. Through close-meshed medical treatment, the suffering can be reduced to such an extent that the affected person can lead a symptom-free life. The cause of the skin disease cannot be treated. Therefore, there is always a risk that an apparently overcome ichthyosis vulgaris will recur. Life expectancy is not reduced by the disease, insofar as the child survives the first weeks of life without permanent damage. However, inferiority complexes and other psychological complaints may develop as a result of the external changes.
Prevention
Causal prevention of ichtyosis vulgaris is not possible. Patients avoid too frequent skin contact with water as well as skin-irritating substances. These measures should be taken into account, especially in the choice of occupation, and help to avoid unnecessarily aggravating the symptoms of ichtyosis vulgaris. Regular medical check-ups as well as individually tailored treatment of ichtyosis vulgaris usually show good results.
Aftercare
Affected persons have no special aftercare measures available in most cases of ichtyosis vulgaris. This disease must be diagnosed by a physician at a very early stage to prevent further worsening of symptoms. As a rule, it is not possible to cure the disease on one’s own, so that those affected are dependent on a visit to a doctor in any case.In case of ichthyosis vulgaris, intensive care of the skin is appropriate. The skin should be treated as often as possible with various creams and ointments to alleviate the symptoms. A high standard of hygiene should also be observed so that the discomfort can be properly alleviated. Some sufferers are dependent on taking various medications due to ichtyosis vulgaris. It is always necessary to pay attention to a correct dosage and also to the regular intake. In case of ambiguity or questions, a doctor should be consulted first. Furthermore, in the case of ichtyosis vulgaris, support and help from one’s family or friends is very important, as this can also prevent psychological upsets or depression.
What you can do yourself
Ichthyosis vulgaris must be medically clarified and treated. Accompanying the drug therapy, the affected person can 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. For example, creams containing urea are suitable, but also natural creams from lemon balm 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 remedies may be used, however, must always be decided by the responsible family doctor. Regular check-ups are obligatory in case of ichthyosis vulgaris. In addition to local therapy, psychological treatment is usually also useful. In conversation with a therapist, the affected person learns to accept the skin changes and to overcome his social fears. Attending a self-help group supports the psychological care and gives the affected person the opportunity to exchange ideas with other ichthyosis patients.
