Ichthyosis, also known by the technical term ichthyosis, refers to a genetically caused skin disease in which skin cell renewal is disturbed. Increased to extreme scaling and keratinization of the skin is the main feature of ichthyosis, which occurs in numerous manifestations and is triggered by errors in the genetic material. The life of sufferers is characterized by daily skin care for several hours and by health problems, as many sufferers do not sweat due to the keratinization. Finally, frequent social exclusion creates additional psychological problems.
What is ichthyosis?
“My skin rules my life: Bathing for an hour every day, always putting cream on, everything is greasy, dandruff trickles onto the clothes. Sports in the summer are unthinkable; going swimming with others is embarrassing to me, and I’ve never had a girlfriend. I would like to get out of my skin.” (Jan, 21, student, suffers from autosomal recessive lamellar ichthyosis).
In ichthyosis, it’s as if the cells get congested. On the one hand too many cells are produced, on the other hand the natural desquamation process is slowed down or hindered. The significantly thickened horny layer cannot bind sufficient water and therefore constantly suffers from high moisture loss. “The thickened skin becomes increasingly dry, it shrinks and breaks open, and the cracks deepen and widen. The skin begins to look as if it is covered with scales,” according to a publication by Self-Help Ichthyosis. The term “ichthyosis” comes from the ancient Greek “ichthýs” meaning “fish.” This expression refers to the skin scales, which resemble fish scales. Nevertheless, the scales of ichthyosis sufferers do not look like those of a fish. Thus, the term “fish scale disease” is irritating and discriminatory to those affected and should be avoided.
Ichthyosis: symptoms
A typical symptom of ichthyosis is that the skin of the affected person builds up considerably. Sometimes thick scales or even horny spikes also develop, which then come off as clearly visible scales, clumped together. Redness and itching as well as dry skin in winter are also typical symptoms. In contrast, blistering is relatively rare in ichthyosis.
Forms of ichthyosis
Dermatologists estimate that there are about 20 different types of ichthyosis. “When Alice was three months old, we noticed fine scales on her arms and legs that were white to slightly gray. Over the first two years of life, the scaling increased and neurodermatitis was added.” Alice, it quickly became clear after a few examinations, suffers from ichthyosis vulgaris. It is the most common and mildest form of ichthyosis and is inherited in an autosomal-dominant manner: independent of gender and – even if only one pathological trait is present on the part of the father or mother – it causes the disease in every case. Men and women are equally frequently affected. Ichthyosis vulgaris is predominantly characterized by dry skin and scales. Besides the most common form, ichthyosis vulgaris, the x-linked (sex-linked) hereditary ichthyosis is almost only visible in males. Female carriers of the disease show dry skin at best. It is the second most common form of ichthyosis. It affects one in 6,000 people. Less frequently, severe ichthyosis occurs in association with other health disorders, as is the case with ichthyosis harlequin, for example.
Diagnosis of ichthyosis
One in 300 people suffers from ichthyosis. The skin requires good care, frequent bathing and creaming, but in most the symptoms disappear by puberty. Doctors actually recognize ichthyosis immediately by the typical appearance of the skin. To determine the form of the disease, a tissue sample of the skin is taken and analyzed under a microscope. In addition, a blood sample is subjected to molecular genetic testing. In this way, the dermatologist can find out exactly which genetic defect has caused the disease.
Ichthyosis: subdivision
Ichthyoses can initially be divided into two major 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, which are called congenital ichthyoses.
A further subdivision can be made according to whether only ichthyosis is present or other features (for example, hair changes, movement disorders, developmental delays).All the different forms of ichthyosis can be classified into these four groups (vulgar ichthyoses with and without other features, congenital, i.e. congenital ichthyoses with and without other features). In the case of the latter classification of ichthyosis forms, we also speak of so-called isolated ichthyoses and keratinization disorders, in which only the skin is affected, in contrast to complex ichthyoses, in which skin involvement is only one of several disorders of a superordinate disease.
