Abstract
Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen. The deficiency and/or dysfunction of type VII collagen leads to subepidermal blistering immediately below the lamina densa, resulting in mucocutaneous fragility and disease complications such as intractable ulcers, extensive scarring, malnutrition, and malignancy. The disease is usually diagnosed by immunofluorescence mapping and/or transmission electron microscopy and subsequently subclassified into one of 14 subtypes. This review provides practical knowledge on the disease, including new therapeutic strategies.
Introduction
Epidermolysis bullosa (EB) is an inherited disorder characterized by mechanical stress-induced blistering of the skin and mucous membranes.1 EB is classified into four major types, namely, EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler syndrome, based on the distinguishing ultrastructural site of skin cleavage.2,3 Tissue separation occurs in the epidermis (EBS), in the lamina lucida (JEB), or in the sublamina densa (DEB). Kindler syndrome, a mixed type, exhibits multiple cleavage planes.
Conclusion
Global patient advocacy groups (DebRA, http://www.debrainternational.org/homepage.html) and a clinical network of EB centers and experts (EB-CLINET, http://www.eb-clinet. org/home.html) have been established because the clinical manifestations of EB are so severe. Thus, EB has a high profile not only in the clinical and research fields, but also among the general public. The development of therapies is an urgent issue. In the two decades since the pathogenic mechanism of DEB was clarified, molecular biology and cell biology have dramatically developed, and recent data from animal models, translational research, and initial clinical trials for DEB show great promise. Further research is required in order to realize practical application of effective new therapies.
