Ichtyosis vulgaris is a skin disease that manifests itself in keratinization disorders. Ichtyosis vulgaris is a hereditary disease associated with symptoms such as dry and scaly skin. Ichtyosis vulgaris is either autosomal dominant or x-linked recessive.
What is ichthyosis vulgaris?
According to abbreviationfinder, the dryness of the skin results from a lack of the protein filaggrin. While the x-linked recessive variant of ichtyosis vulgaris usually only occurs in males, the autosomal dominant form is found in females and males alike.
In principle, physicians differentiate between two forms of ichtyosis vulgaris according to the respective inheritance pattern. The autosomal dominant form is the form of ichtyosis vulgaris that occurs with the greatest frequency. The patients are affected by genetic mutations at gene locus 1q21.
The corresponding gene region is responsible for coding the protein filaggrin, which plays an important role in the formation of structures in the skin. The x-linked recessive form of ichtyosis vulgaris occurs somewhat less frequently. Ichtyosis vulgaris is also known colloquially as so-called fish scale disease.
The term refers to the typical appearance of the skin in the context of ichtyosis vulgaris. In Germany, an estimated 100,000 people suffer from ichtyosis vulgaris. The disease manifests itself particularly in the winter season due to the cold temperatures.
For many of those affected, ichtyosis vulgaris represents a significant psychological burden of suffering, since the sufferers perceive the appearance of the skin as unaesthetic. Ichtyosis vulgaris is particularly evident in the legs and arms and on the trunk. The scaly structure of the skin’s surface intensifies, especially in winter.
In addition, the skin dries out severely due to ichtyosis vulgaris and tends to be rough and cracked. About a quarter of those affected also suffer from neurodermatitis at the same time. In these people, ichtyosis vulgaris is usually accompanied by itching.
Causes
Ichtyosis vulgaris results from genetic mutations. While the autosomal dominant form of ichtyosis vulgaris develops through gene mutations on the 1q21 locus, the X-linked recessive form results from mutations on the X chromosome and the locus 22.32. This area is responsible for encoding an enzyme called steroid sulphatase.
The defect leads to errors in the production of the enzyme, so that the skin’s regeneration processes are disrupted. Basically, this form of ichtyosis vulgaris manifests itself exclusively in male patients. Because men only have one X chromosome, while women have two and thus only act as genetic carriers of ichtyosis vulgaris without showing any symptoms themselves.
Contact with water or humid air usually increases the symptoms of ichtyosis vulgaris. Skin-irritating substances should also be avoided by those affected, as they aggravate the symptoms.
Symptoms, Ailments & Signs
The first manifestation of ichtyosis vulgaris usually occurs in patients of infancy. Until the pubertal growth phase, the symptoms of ichtyosis vulgaris increase continuously until stagnation and subsequent regression finally set in. Typical of ichtyosis vulgaris is very dry skin with a pronounced line pattern of the individual skin flakes.
The dryness of the skin results from a lack of the protein filaggrin. While the x-linked recessive variant of ichtyosis vulgaris usually only occurs in males, the autosomal dominant form is found in females and males alike. Under normal circumstances, the skin sheds scales all the time.
However, with ichtyosis vulgaris, the scales are associated with the skin for a long time, since 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 progressive forms sometimes go completely unnoticed. In adult patients, ichtyosis vulgaris usually resolves gradually.
Diagnosis & course of disease
The diagnosis of ichtyosis vulgaris is made by a dermatologist based on the typical signs and clinical examination methods. The anamnesis explores the previous course of ichtyosis vulgaris as well as similar cases in the family. During the visual examination, the doctor registers the characteristic appearance of the skin with the characteristic scale pattern.
A molecular genetic examination of the patient is used to confirm the diagnosis of ichtyosis vulgaris. In this way, the doctor identifies the genetic defects in the corresponding genes, so that confusion with other skin diseases is almost impossible. Histological examinations of the skin affected by ichtyosis vulgaris additionally support the diagnosis.
When should you go to the doctor?
A doctor’s visit is advisable as soon as skin abnormalities or changes in the skin’s appearance appear. Since ichthyosis vulgaris is a congenital disorder, the peculiarities of the skin are often noticed immediately after birth by the obstetrician or later by the pediatrician. In many cases, the parents do not have to take action themselves when it comes to this disease, as diagnosis can be made 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 doctor. If the complexion shows line patterns or a special shine, this can be an indication of an existing disorder.
A skin inspection and a blood test provide information about the presence of the hereditary disease. If the changes in the skin increase in extent or intensity, a doctor should be consulted. If emotional problems occur due to the visual abnormalities, it is also advisable to consult a doctor. The visual blemish can cause mental distress. A doctor should therefore be consulted in good time so that no mental illnesses develop. If the skin changes cause pain, general discomfort or mobility restrictions, a doctor’s visit is necessary. A doctor is required in the case of sensory disturbances, influences on sensitivity or a feeling of numbness on the skin.
Treatment & Therapy
The causes of ichtyosis vulgaris cannot be treated, which is why the focus is on alleviating the symptoms. The patients usually receive special creams that lubricate the skin and support desquamation. The addition of lactic acid, for example, which supports the skin’s natural protective acid layer, plays an important role. UV therapies and salt baths also help with regular use.
Outlook & Forecast
Ichthyosis vulgaris usually takes a protracted course. How severe the disease is depends on its form and when treatment is started. In severe cases, the sick child dies shortly after birth or in the first few weeks of life.
In most cases, the symptoms develop within the first few months of life and significantly reduce the quality of life and well-being of the child. Early treatment can reduce the symptoms and complaints of the skin to such an extent that those affected can lead a relatively normal life. Nevertheless, the sick always have to be treated with medication, which means an additional burden.
A mildly pronounced ichthyosis vulgaris nevertheless promises a positive prognosis. With close-meshed medical treatment, the suffering can be reduced to such an extent that those affected are able to 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 reappear.
Life expectancy is not reduced by the disease as long as the child survives the first few weeks of life without permanent damage. However, as a result of external changes, inferiority complexes and other psychological problems can develop.
Prevention
A causal prevention of ichtyosis vulgaris is not possible. Patients avoid too frequent skin contact with water and skin-irritating substances. These measures are particularly important when choosing a career and help to avoid unnecessarily aggravating the symptoms of ichtyosis vulgaris. Regular medical check-ups and individually tailored treatment of ichtyosis vulgaris usually show good results.
Aftercare
In most cases, those affected by ichtyosis vulgaris do not have any special aftercare measures. This disease must be diagnosed by a doctor at a very early stage to prevent the symptoms from getting worse. As a rule, it cannot heal on its own, so those affected are dependent on a visit to a doctor in any case.
In the case of ichtyosis vulgaris, intensive care of the skin is appropriate. The skin should be treated with various creams and ointments as often as possible to alleviate the symptoms. A high standard of hygiene must also be observed so that the symptoms can be properly alleviated. Because of ichtyosis vulgaris, some of those affected are dependent on taking various medications.
It is always important to ensure that the dosage is correct and that it is taken regularly. If anything is unclear or if you have any questions, you should first consult a doctor. Furthermore, with ichtyosis vulgaris, the support and help of one’s own family or friends is very important, as this can also prevent psychological upsets or depression.
You can do that yourself
Ichthyosis vulgaris must be medically clarified and treated. In addition to drug therapy, the affected person can take a number of measures to relieve 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. Creams containing urea, for example, are suitable, as are natural creams made from lemon balm or chamomile. As long as the skin is not inflamed, preparations with vitamin A acid can also be used. Arsenicum album, Rhus toxicodendron and other homeopathic remedies support the treatment of ichthyosis vulgaris. However, it is always up to the doctor in charge to decide which means may be used.
Regular check-ups are mandatory for ichthyosis vulgaris. In addition to local therapy, psychological treatment is usually useful. In a conversation with a therapist, the affected person learns to accept the skin changes and to overcome their social fears. Visiting a self-help group supports the psychological care and gives the person concerned the opportunity to exchange ideas with other ichthyosis patients.
