Skin barrier genetics: Filaggrin and the dermatologist

Many dermatologists may question the relevance of genetics to their every day clinical practice. While this might be true for the rarely encountered genodermatoses such as epidermolysis bullosa or xeroderma pigmentosum, it is becoming clear that for some common dermatoses, genetics is in fact at the core of trying to develop new and better treatments for patients. One emerging example of this is the gene encoding the skin protein filaggrin, defects in which are now known to cause ichthyosis vulgaris and which also constitute a major risk factor for atopic dermatitis and other skin and systemic allergies. By understanding how filaggrin gene mutations disrupt the skin barrier as well as their downstream consequences on skin function and inflammation, new insights into skin biology and disease mechanisms can be established. Moreover, targeting new therapies to boost filaggrin expression in skin is destined to change the way we manage a range of conditions from mild xerosis to severe forms of atopic dermatitis.