Leena Bruckner-Tuderman
DOI: 10.2340/00015555-3398

The term skin fragility disorders describes a group of conditions in which the structural integrity of the skin is compromised and its resistance to external shear forces diminished. Skin fragility can have different causes, ranging from genetic variations to inflammatory or physical phenomena. The genetic skin fragility disorders, collectively called epidermolysis bullosa, serve as a paradigm for the study of causes and mechanisms of skin fragility. Recent biomedical research has revealed substantial genetic heterogeneity of the epidermolysis bullosa group, delivered ample new knowledge on its pathophysiology, and facilitated the design of evidence-based therapeutic strategies. The therapy development process extends from in vitro testing to preclinical validation in animal models, and clinical trials. This article reviews different approaches to curative and symptom-relief therapies, and appraises their status and perspectives for clinical implementation.

The term skin fragility describes skin that blisters and breaks easily upon mild friction or trauma. Skin fragility can have many causes, ranging from genetic variants to a compromised immune system, infections or adverse drug reactions. Studies of genetic skin fragility disorders, such as epidermolysis bullosa, have provided better understanding of their causes and mechanisms. At least 20 genes may be involved in epidermolysis bullosa, and secondary phenomena, such as inflammation or fibrosis, can worsen the disease. No cure is yet available, but international research is developing novel approaches to cure the disease and alleviate its symptoms. This article reviews these new developments and appraises their clinical implementation.