Ichthyosis, also known by the technical term ichthyosis, refers to a genetically caused skin disease in which the skin cell renewal is disturbed. Increased to extreme scaling and keratinization of the skin is the main feature of ichthyosis, which occurs in numerous appearances and is triggered by defects in the genome. The life of the patients is characterized by daily skin care lasting several hours and by health problems, since many sufferers do not sweat because of the cornification. Finally, frequent social exclusion creates additional psychological problems.
What is ichthyosis?
"My skin determines my life: bathing every day for an hour, creaming again and again, everything is greasy, scales are falling on your clothes, summer sports is out of the question, swimming with others is embarrassing, and I still have a girlfriend I would like to get out of my skin. " (Jan, 21, student, suffers from autosomal recessive lamellar ichthyosis)
In ichthyosis, it is as if the cells are jamming. On the one hand, too many cells are produced, on the other hand, the natural desquamation process is slowed or hindered. The clearly thickened horny layer can not bind enough water and therefore suffers constantly from a high moisture loss.
"The thickened skin is getting drier, it shrinks and breaks, and the cracks deepen and widen, and the skin starts to look as if it's covered with dandruff, " says a self-help book Ichthyose .
The term "ichthyosis" comes from the ancient Greek "ichthýs" for "fish". This term refers to dander that resembles fish scales. However, the scaling in ichthyosis sufferers does not look like a fish. The term "fish scale disease" is thus irritating and discriminatory for those affected and should therefore be avoided.
A typical symptom of ichthyosis is that the skin of those affected builds up considerably. Sometimes thick scales or even horn stinging, which then zusammengeballt and clumped as clearly visible scales peel off.
Also redness and itching as well as dry skin in winter are typical symptoms. On the other hand, blistering of ichthyosis is relatively rare.
Forms of ichthyosis
Dermatologists estimate that there are around 20 different types of ichthyosis. "When Alice was three months old, we noticed fine scales on her arms and legs, which were white to slightly gray, and in the course of the first two years of life the scaling increased, atopic dermatitis was added."
Alice, who after a few examinations quickly became clearly suffering from ichthyosis vulgaris. It is the most common and mild form of ichthyosis and is inherited in an autosomal dominant fashion: Independent of sex and - even if only one morbid feature is present on the part of the father or the mother - it is always disease-causing. Men and women are equally affected. Ichthyosis vulgaris is predominantly characterized by dry skin and dandruff.
In addition to the most common form, the ichthyosis vulgaris, is the x-linked (sex-linked) hereditary ichthyosis almost only visible in men. Female carriers of the disease show at best a dry skin. It is the second most common form of ichthyosis. She suffers from one in 6, 000 people.
Less common are severe ichthyoses associated with other disorders, such as the case of ichthyosis harlequin.
Diagnosis of ichthyosis
Of 300 people, one suffers from ichthyosis. The skin requires good care, frequent bathing and creaming, but in most cases the symptoms disappear until puberty.
Doctors immediately recognize the ichthyosis on the typical appearance of the skin. To determine the disease form, a tissue sample is taken from the skin and analyzed under a microscope. In addition, a blood sample is examined by molecular genetics. So the dermatologist can find out which genetic defect caused the disease.
Ichthyoses can be divided into two main groups:
- Ichthyoses that do not exist at birth, but develop during the first weeks or months of life. These are called vulgar ichthyoses.
- Congenital ichthyoses called congenital ichthyoses.
Another subdivision can be made according to whether there is only ichthyosis or other features (for example, hair changes, movement disorders, developmental delays). In these four groups (vulgar ichthyoses with and without further features, congenital, that is, congenital ichthyoses with and without further characteristics) all different forms of ichthyoses can be classified.
In the case of the latter classification of the ichthyosis forms one also speaks of so-called isolated ichthyoses and cornification disorders, in which only the skin is affected, in contrast to complex ichthyoses, in which the skin involvement is only one of several diseases of a parent disease.