Understanding Ichthyosis: Causes, Symptoms, and Management

Ichthyosis, also known under the technical term ichthyosis, describes a genetically caused skin disease in which skin cell renewal is disturbed. Increased to extreme scaling and cornification of the skin is the central symptom of ichthyosis, which occurs in numerous forms and is triggered by errors in the genetic material. The lives of those affected are shaped by daily skin care lasting several hours and health problems since many affected people do not sweat because of the cornification. Finally, frequent social exclusion creates additional psychological problems. What is behind the disease?

What is ichthyosis?

With ichthyosis, it is as if the cells are 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 enough water and, therefore, constantly suffers from a high level of moisture loss.

The thickened skin becomes drier and drier, shrinking and breaking open. The resulting cracks deepen and widen. The skin looks as if it is covered with scales. For those affected, this means a high level of suffering and much time spent on daily skin care.

The term “ichthyosis” comes from the ancient Greek “ichthýs” for “fish”. This term refers to the scales of skin that resemble fish scales. Nevertheless, the scales in people affected by ichthyosis do not look like those of a fish. The term “fish scale disease” is irritating and discriminatory for those affected and should therefore be avoided.

 

Ichthyosis: Symptoms

A typical symptom of ichthyosis is that the skin of those affected builds up considerably. Sometimes thick scales or even horny spines develop, which then form clumped together and come off as clearly visible scales.

Redness and itching, as well as dry skin in winter, are also typical symptoms. In contrast, blistering in ichthyosis is relatively rare.

forms of ichthyosis

Dermatologists estimate that there are around 20 different types of ichthyosis.

Ichthyosis vulgaris is the most common and mildest form of ichthyosis. It is inherited in an autosomal dominant manner, regardless of gender and – even if there is only one pathological characteristic on the part of the father or mother – in any case triggering the disease. Men and women are equally affected. Ichthyosis vulgaris is mainly characterized by dry skin and scales. 

In addition to the most common form,  ichthyosis vulgaris,  x-linked (sex-linked) hereditary ichthyosis is almost exclusively visible in men. Female carriers of the disease show most dry skin. It is the second most common form of ichthyosis. It affects one in 6,000 people. 

Severe ichthyosis occurs less frequently in connection with other health disorders, for example, with ichthyosis harlequin.

 

The division into four groups

Ichthyoses can be divided into two large groups:

• Ichthyoses not present at birth develop in the first few weeks or months of life. These are called vulgar ichthyoses.
• Congenital ichthyoses are called congenital ichthyoses.

A further subdivision can be made according to whether only ichthyosis is present or whether there are other characteristics (e.g. hair changes, movement disorders, developmental delays). All different forms of ichthyoses can be classified into these four groups (vulgar ichthyoses with and without further characteristics, as well as congenital ichthyoses with and without further characteristics).

In the case of the latter classification of the forms of ichthyosis, 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 superordinate disease.

Lamellar ichthyosis

“Marc was a premature baby. His skin was like oiled parchment. The yellowish-brownish skin was transparent and gradually cracked. The skin underneath was reddish and scaly.” Marc’s parents found out that their son had congenital lamellar ichthyosis, medically called “autosomal recessive lamellar ichthyosis”. Babies with these symptoms are also called collodion babies (Greek-Latin “glue-like”). Sometimes, the skin is completely red, while in others, there is no redness.

The size and colour of the scales are very different. Many have rather fine and light brown scales, but others may have much thicker, plate-like and often very dark keratinization. The scales are always composed of thin layers of cells superimposed like lamellae, hence the term “lamellar ichthyosis”.

Since the skin is dehydrated, the lower eyelids can pull down, a so-called ectropion. Palms and soles are often furrowed with distinct lines and show increased horns. Babies with the collodion membrane are at-risk patients who are monitored in intensive care medicine. Due to the genetically modified structure of the horny layer, your skin has only a low ability to bind water. The children lose fluids and heat very quickly.

diagnosis of ichthyosis

One in 300 people suffers from ichthyosis. The skin requires good care, frequent bathing and lotioning, but the symptoms disappear by puberty for most.

Doctors recognize ichthyosis immediately by the typical appearance of the skin. To determine the form of the disease, a tissue sample is taken from the skin and analyzed under a microscope. In addition, a blood sample is analyzed for molecular genetics. This way, the dermatologist can determine which genetic defect caused the disease.

 

Genetic defect as the cause

Not much is known about the causes of autosomal recessive lamellar ichthyoses. However, mutations have been found in the enzyme transglutaminase. The transglutaminase is responsible for the formation of the cell membrane in the horny layer cells. A second gene locus has been found, but what is encoded is known. To be discoveredddition to these two gene loci, there must be at least one-third place in the genome that leads to ichthyosis in the event of a defect.

So far, it has been shown that there is no connection between the severity of ichthyosis and the various gene loci. To determine whether patients lack this critical enzyme, a small skin sample is taken and deep-frozen to measure the enzyme’s activity using a novel biochemical test developed by the Münster team.

For example, the scientists detected a mutation in the transglutaminase one gene in the “Collodion Baby”. The development of new therapy strategies for the severe forms of ichthyosis aims to genetically produce the missing enzymes in bacteria or yeast cultures and incorporate them into ointments. If this approach proves successful, it would represent a breakthrough in causal treatment.

Professor dr However, Heiko Traupe, dermatologist and spokesman for the “Network for Ichthyoses and Related Cornification Disorders” (NIRK) does not want to raise false hopes too early. Experimental work is still required first. “In five years,” he estimates, “we will be ready to conduct the first clinical trials on humans.”

treatment

Ichthyoses cannot be cured. Therefore, Your treatment is based on the individual symptoms and is only symptomatic. Since the skin is too dry overall, it needs water and fat and has to be “descaled”. Baths with table salt and bath oil are considered very useful. Sponges for brushing the skin are essential.

External treatment of ichthyoses

Ointments and creams for the external treatment of ichthyosis consist of an oil-water mixture in various concentrations, such as Vaseline, glycerin, Eucerin, wool wax alcohols, etc. The pharmacist can incorporate various active ingredients that promote desquamation into these bases: urea, salicylic acid, common salt, lactic acid and vitamin A. The ointment base polyethene glycol also has a peeling effect. According to the dermatologists, urea has proven to be the best.

Especially in small children, salicylic acid may only be used on small areas of skin and only for a short time, as long-term, highly concentrated treatment over large areas can lead to poisoning. The most potent dandruff remover is vitamin A acid. However, it quickly causes skin irritation and burning, so care must be taken when using it.

Some active ingredients can also be combined to increase the effect. Common and effective concentrations of these horn-splitting substances are:

• Salicylic acid up to 5%
• Vitamin A acid 0.025%
• Urea up to 12%
• table salt up to 5%
• lactic acid up to 5%
• Polyethylene glycol 300-400

 

Further therapeutic measures

Steam baths at moderate temperatures with high humidity soften the calluses. In addition to oil or salt baths, the sun or a warm and humid climate positively affects the skin’s condition.

Comprehensive treatment always includes professional advice that takes sensitive skin into account.

Internal treatment of ichthyoses

Internal treatment is possible with tablets containing the active ingredient acitretin. These tablets belong to the group of retinoids, which are substances related to vitamin A – drugs similar to vitamin A (retinol) in structure and effect. Retinoids influence the conversion of a cell’s genetic information.

In the case of keratinization disorders, they intervene to regulate the uncontrolled proliferation of skin cells and promote the slow maturation of the newly formed cells. They also have a direct corneal-dissolving effect that occurs after just a few days. Retinoids affect cells of the immune system in the skin and have an anti-inflammatory effect. Acitretin removes keratinization from the skin and prevents it from forming again for a certain period.

Caution: Acitretin is not suitable for women of childbearing age, as it causes severe damage to the unborn child during Pregnancy. Pregnancy must, therefore, be ruled out with certainty before, during and up to two years after the end of therapy.

Beware of heat build-up.

The inability to sweat is very problematic. For those affected, this is often worse than skin scaling. For children, this means that they cannot play in the summer months. But even adults are limited in their performance despite preventive measures.

At temperatures of around 20 °C, even moderate physical exertion can lead to heat build-up. At higher temperatures, massive facial flushing and overheating of the body occur with concomitant dehydration (dehydration). Only internal (drinks, ice cream) and especially external cooling and fluid intake can prevent children’s circulatory collapse and febrile seizures.

 

Psychosocial consequences of ichthyosis

The visibility of their skin disease causes considerable problems for those affected. Rejection, irritating and discriminatory remarks and social exclusion begin in infancy and continue throughout life. New therapies, new doctors, often hopelessness and tiresome constant skin care are a burden nobody can understand. Psychotherapeutic support can be helpful.

“Those affected not only feel uncomfortable in their skin in the truest sense of the word,” emphasizes Professor Traupe, “they usually also have major problems accepting themselves. Many live extremely secluded lives because they feel their environment reacts to their appearance. In addition, an extreme amount of care is required. To treat the dehydrated and calloused skin all over the body, from which scales are constantly falling, the patients usually spend at least an hour every day in the tub for the rest of their lives.”

Care support options

It is already possible for small children to apply for a severely disabled person‘s pass at the pension office. The degree of disability (GdB) in congenital ichthyosis is usually between 50 and 70 out of 100, but can also be up to 100 depending on the severity.

Treating a child with ichthyosis is not only associated with a great deal of emotional distress, time and effort but also with significant additional costs (such as water, detergent, clothing, and non-reimbursable care products). Therefore, the application for care allowance according to SGB XI is justified.