When the Skin Just Won’t Heal

The spectrum of uncontrolled inflammatory reactions has significantly deepened in the understanding of the pathophysiology of autoimmune, autoinflammatory, and peri-/post-infectious diseases in recent years. If complex, multi-organ inflammatory diseases occur very early in life, then among other things, the “broadest” autoimmune disease, systemic lupus erythematosus (SLE), may even need to be considered on a monogenetic basis. Here, genetic “autoinflammatory” panels based on next-generation sequencing technology can be helpful in defining a “simple” genetic predisposition or a direct monogenetic pathophysiology from the complex field. In the case of our patient, such a genetically fixed interferonopathy/SLE is present. The therapeutic efforts are complex and include conventional basic therapeutics, but also modern biologics. A blockade of lymphocyte costimulation was successful in the presented girl. The understanding of the molecular basis of complex inflammatory diseases is concretely relevant for clinical practice.