Not much is known about the causes of autosomal recessive lamellar ichthyosis. 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. Meanwhile, a second Genort is found, but what is coded at this point is not yet known. In addition to these two loci, there must be at least one third in the genome, which leads to an ichthyosis in case of a defect.
Ichthyosis: genetic defect as a cause
So far, it has been shown that there is no correlation between the severity of ichthyosis and the different loci. In order to find out whether patients actually lack this important enzyme, a small skin sample is taken and deep-frozen, to subsequently measure the activity of the enzyme using a novel biochemical test developed by the Münster research group.
A mutation in the transglutaminase 1 gene, for example, the scientists could prove the "collodion baby". The development of new therapeutic strategies for the severe forms of ichthyosis aims to genetically engineer the missing enzymes in bacteria or yeast cultures and incorporate them into ointments. If this approach proves successful, it would indeed have succeeded in breaking through to a causal treatment.
Professor Heiko Traupe, dermatologist and spokesman for the "Network for Ichthyosis and Allied Nodules" (NIRK), does not want to raise false hopes too soon. First, experimental work is still required. "In five years, " he says, "we'll be ready to do our first human clinical trials."
Ichthyosis: an isolated life as a result
"Not only do people literally feel uncomfortable in their skin, " stresses Professor Traupe, "they also have a hard time accepting themselves, many of whom are extremely withdrawn because they feel the reaction of the environment to their external environment To treat the extremely dry and calloused skin on the whole body, from which shingles invariably, patients usually spend at least one hour in the tub every day for their entire lives. "
Heiko Traupe is one of the few scientists in Germany who are scientifically and clinically intensively involved with ichthyoses. Patients from all over Germany come to the special consultation led by him at the Department of Dermatology of the University Hospital Münster, which in addition to clinics in Cologne, Marburg and Bad Salzschlierf is one of only four specially designated points of contact for ichthyosis patients in Germany. The NIRK focuses on the particularly severe variants of ichthyosis, of which statistically only two out of every 100, 000 patients and about 1, 600 to 2, 000 patients nationwide are affected.
"Marc was a premature baby, his skin reminded of oiled parchment, the yellowish-brown skin was transparent and gradually tearing in. The skin underneath was reddish and flaky." Marc's parents learned that their son suffers from congenital lamellar ichthyosis, medically termed "autosomal recessive lamellar ichthyosis." Babies with these symptoms are also called collodion babies (Greek Latin "gluey"). Sometimes the skin is completely red, while other people have no redness.
The size and color of the scale are very different. Many have a rather fine and light brown scaling, but others may have a much thicker, plate-like and often very dark cornification. The scales always consist of thin layers of cells, which overlap like lamellae; hence the name "lamellar ichthyosis" .
Since the skin is very dry, it can come to a pulling down of the lower eyelids, a so-called ectropion. Palms and soles of the feet are often ridged by pronounced lines and show increased horn. Babies with the collodion membrane are at-risk patients who are under intensive care. Due to the genetically modified structure of the horny layer, your skin has only a minor ability to bind water. The children lose fluid and heat very quickly.