Diagnosis | Ichthyosis

Diagnosis

In order to diagnose ichthyosis, it is usually best to consult a dermatologist (dermatologist) as he or she is specialized in skin diseases and therefore has the most experience in this field. The diagnosis of ichthyosis is often a gaze diagnosis for an experienced dermatologist, while others may find it difficult to distinguish between ichthyosis and neurodermatitis, especially if it is a mild form of ichthyosis. However, since the various forms of ichthyosis usually have a specific pattern of attack on the body, a gaze diagnosis is possible.

Additionally, a small tissue sample can be taken from the patient. These tissue samples are then analyzed with the help of a microscope; this is called histological examination. This can determine whether the cornification process of the skin is disturbed, which is the case with ichthyosis.

In addition, blood can be taken from the patient, which is then used for DNA analysis, i.e. the evaluation of the genetic material. Here it can be determined whether it is actually a gene defect, which then leads to the illness. Since ichthyosis frequently occurs in the first months of life, the pediatrician can also be consulted.

Frequency distribution

Ichthyosis is not a rare disease. The mild form of ichthyosis occurs in about every 300th person. The more severe forms, however, are rarer.Nevertheless, patients should not be ashamed of the disease, but learn to live with it and accept it as a part of themselves.

Symptoms

The symptoms of ichthyosis vary greatly depending on the severity and form of the ichthyosis. Typical for all forms, however, is that ichthyosis leads to a very thickened uppermost skin layer. In addition, the skin is repeatedly flaky and larger amounts of scales are produced than in patients without ichthyosis.

Frequently itching is added to this, and the skin may also be reddened. Especially in the cold winter months, the symptoms are intensified because the skin loses moisture during the cold season even in healthy people, which becomes noticeable particularly quickly in patients with ichthyosis. In rare cases, blisters appear on the skin.

The severe forms of ichthyosis are recognizable shortly after birth, whereas mild forms are most noticeable in the winter months and are sometimes almost completely asymptomatic in summer. It is important to know that heat can hardly escape through the corneal layer of the skin, which means that patients with ichthyosis sweat less than healthy patients. However, this has the disadvantage that the thermoregulation of the body is disturbed and that more water has to be added to the body during sports because otherwise the body overheats and dries out.