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Missing protein causes scaly skin.
(08/12/2010) Researchers at the universities of Cologne, Münster, Berlin, Heidelberg and Kiel have taken a good step further in the search for the causes of flaky or calloused skin. They have examined the relatively rare inherited skin disease "peeling skin syndrome" and their results are now titled "Loss of corneodesmosin leads to severe skin barrier defect, pruritus and atopy: unraveling the peeling skin disease" in the American Journal of Human Genetics "released.
The disease leads to severe reddening and massive itching, with the skin sometimes becoming unevenly detached. According to the experts, the reason for this is the lack of protein corneodesmosin, which binds dying and dead skin cells of the epidermis to one another and builds up molecular junctions of the horny layer (corneodesmosomes). The complete failure of the protein is caused by a mutation of the corresponding gene and can also facilitate the penetration of pathogens through the skin, so that allergic reactions occur more often among those affected. Based on the new findings, new treatment options could now be developed, the experts hope, since it has now been clearly clarified what role skin barrier disorders can play in various allergies. Drugs and therapies that can help to restore the skin barrier for a healthy epidermis are currently being studied at various universities.
The researchers came to the results shown with the help of a genome-wide coupling analysis, in which they were able to identify a genetic mutation as the cause of the complete failure of the protein corneodesmosin. In subsequent experiments on artificial skin models, the experts further clarified that without corneodesmosin, significant barrier disorders of the epidermis and the above-mentioned allergic reactions occur. (fp)