Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.

BACKGROUND: Several new targeted genes and clinical subtypes have been identified since publication in 2008 of the report of the last international consensus meeting on diagnosis and classification of epidermolysis bullosa (EB). As a correlate, new clinical manifestations have been seen in several subtypes previously described. OBJECTIVE: We sought to arrive at an updated consensus on the classification of EB subtypes, based on newer data, both clinical and molecular. RESULTS: In this latest consensus report, we introduce a new approach to classification ("onion skinning") that takes into account sequentially the major EB type present (based on identification of the level of skin cleavage), phenotypic characteristics (distribution and severity of disease activity; specific extracutaneous features; other), mode of inheritance, targeted protein and its relative expression in skin, gene involved and type(s) of mutation present, and--when possible--specific mutation(s) and their location(s). LIMITATIONS: This classification scheme critically takes into account all published data through June 2013. Further modifications are likely in the future, as more is learned about this group of diseases. CONCLUSION: The proposed classification scheme should be of value both to clinicians and researchers, emphasizing both clinical and molecular features of each EB subtype, and has sufficient flexibility incorporated in its structure to permit further modifications in the future.

The changing roles of industry and academia.

Over the past 25 years both the quality and quantity of pharmaceutical and biopharmaceutical research has changed. Formerly rigidly separated research efforts in academic institutions and the biopharmaceutical industry have become increasingly transparent to one another. Industry has in some cases scaled down its internal research efforts, while enhancing its outreach to basic research in academic institutions. In parallel, research at academic institutions has-in some cases-added a focus on application of discoveries to patient needs. This porosity between industry and academia has created opportunities for more rapid translation of basic discoveries to patient needs. Additionally, both physicians and fundamental scientists have broadened their career opportunities, and movement between industry and academia-almost unheard of two decades ago-now occurs regularly. At the same time, numerous examples exist of how these translational efforts have benefited not only patients but also investigators and academic institutions as well. Despite many potential advantages of closer interactions between industry and academia, other issues, such as conflicts of interest (both real and perceived), continue to pose challenges.

Skin biology.

The development of topical drug delivery systems has recently gained significant interest due to the ease of administration and lesser risks of systemic toxicity. The development of these new technologies utilizes the properties of the structure and function of the skin. The stratum corneum plays the largest role in affecting drug permeation, as the corneocytes and lipid matrix in this layer effectively prevent the diffusion of large molecules. In this review, we introduce the structure and function of the skin as it relates to topical drug delivery.

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.

BACKGROUND: Since publication in 2000 of the Second International Consensus Report on Diagnosis and Classification of Epidermolysis Bullosa, many advances have been made to our understanding of this group of diseases, both clinically and molecularly. At the same time, new epidermolysis bullosa (EB) subtypes have been described and similarities with some other diseases have been identified. OBJECTIVE: We sought to arrive at a new consensus of the classification of EB subtypes. RESULTS: We now present a revised classification system that takes into account the new advances, as well as encompassing other inherited diseases that should also be included within the EB spectrum, based on the presence of blistering and mechanical fragility. Current recommendations are made on the use of specific diagnostic tests, with updates on the findings known to occur within each of the major EB subtypes. Electronic links are also provided to informational and laboratory resources of particular benefit to clinicians and their patients. LIMITATIONS: As more becomes known about this disease, future modifications may be needed. The classification system has been designed with sufficient flexibility for these modifications. CONCLUSION: This revised classification system should assist clinicians in accurately diagnosing and subclassifying patients with EB.