Chronic skin disorders are often grouped and studied together although on a molecular level, they are very different. From Nagoya University, researchers suggest defining a completely new category of chronic skin disorders, characterized by specific genetic mutations that trigger inflammation.
“Many skin disorders are put into the very broad group of inflammatory keratinization diseases,” explained lead author Masashi Akiyama. “This term is not very helpful because it covers so many kinds of skin problems and doesn't consider if the [root] cause is inflammatory or genetic, or a combination of both.”
Keratinization is the process of forming the outer layer of skin, involving tough, water-resistant proteins such as keratin and lipids like ceramides. Keratins are structural proteins that provide a foundation for keratinocytes, the most common type of cell in the epidermis, the outermost layer of the skin. There are many different subtypes of keratins, which means there are many different, highly specific ways to disrupt keratinization. And if something disturbs keratinization, skin problems erupt.
Allergic reactions to particular allergens, eczema, and other autoimmune reactions are all capable of disturbing keratinization and causing a chronic skin condition. But in their most recent study, Nagoya researchers are making an important distinction, specifying a certain type of skin condition caused by what Akiyama calls an “autoinflammatory” response with a genetic basis. Instead of the trigger being an irritant or allergen, it’s an individual’s set of genes that directs the inflammatory response.
Identifying the true cause of any disorder is the first step toward finding the right drug, lifestyle change, or gene therapy for those afflicted.
"We have been finding more and more of these autoinflammatory related skin diseases and it's time we recognize this as a new category of inflammatory keratinization disease," explained co-author Kazumitsu Sugiura. "A better understanding of the root causes of skin problems is the only way for physicians to help patients manage their conditions and develop more effective treatments."
The present study was published in the journal Journal of Allergy and Clinical Immunology.