Life with epidermolysis bullosa (EB): Etiology, diagnosis, multidisciplinary care and therapy

Abstract

This is the first new book devoted to epidermolysis bullosa (EB) to hit the shelves since Jo-David Fine's masterpiece that came out about a decade ago; the book is packed with epidemiologic data from the National EB Registry in the United States, which he founded. This attractive new hardback addresses some of the particular clinical complications of EB and has more of a personal, humanistic approach to it. It is coauthored by one of Europe's leaders in EB, Professor Helmut Hintner, a former National Institutes of Health colleague of Fine's who has been advancing the field of EB for the last 3 decades. Hintner and the Dystrophic EB Research Association (DebRA) Austria have created the world's first dedicated “EB Haus” at his hospital in Salzburg, and it is from this multidisciplinary purpose–built EB center that many of the articles were written. The articles on the diagnosis of EB and molecular techniques are particularly well explained, especially by Gabi Pohla-Gubo, the scientist who runs the EB immunofluorescence diagnostic laboratory in Austria, and Professor Johann Bauer, who directs the molecular diagnostic laboratory there; both are written for clinicians. There are very clear photographs of the immunofluorescence antigen mapping patterns seen in different forms of EB. Emeritus Professor Robin Eady, who developed the electron microscopy expertise for EB in London, has contributed a very clear section on the ultrastructural changes. Klausseger and Bauer's section, which explains the different types of mutations that occur and how they result in different severities of EB, would be applicable to any genodermatosis, and is therefore a very useful reference—particularly for their explanation of uniparental disomy. The master of making complex issues simple (and the American Academy of Dermatology's recent Sulzberger awardee), Professor John McGrath, from St John's Institute of Dermatology in London, has provided an excellent chapter on prenatal diagnosis for EB. If there were any drawbacks, it would be that the classification section was written before the new classification, published in the JAAD in mid-2008, had been agreed upon. Drawing upon particular clinical problems faced in EB is the focus of the clinical section of the book, rather than a comprehensive overview of every particular issue. New topics not covered in Fine's previous book are EB nevi, intraoral disease, and the psychosocial aspects of the disease. Particularly when Fine is the author, the text is very precise and a pleasure to read. The plentiful color images are excellent examples, particularly in the sections on eyes and teeth. The intraoral chapter has clear explanations of the embryology of dental development; this is again applicable to other genodermatoses. This book covers less of the epidemiology than Fine's previous book, limiting it mainly to the sections on premature death and musculoskeletal deformities. Therapeutic approaches are covered in the last section. Christoph Lanschuetzer's review of wound healing is practical and thorough, from simple bathing and the principles of which dressings to use, to the newer protein and cell therapies currently in trials. Pain and pruritus are difficult problems to manage in the setting of EB, and useful clinical tips are offered. The section about the EB Haus in Austria and how funding was raised for this prototype for the excellent management of EB is reason enough to purchase this book. Turn to page 243 to see how these images, without showing a single patient, speak more than a thousand words ever could, and why these won a major advertising award. The next page shows pictures of the layout of this amazing facility I have visited, which has a patient-focused approach to the clinical, educational, and research aspects of EB all being housed together, and even an apartment for a family to stay there. The chapter on surgical interventions covers the repair of pseudosyndactyly in detail, which explains that this is based more on surgeon-driven opinions than a scientific evidence-base; the importance of splinting and physical therapy is driven home both here and in the subsequent chapter. The doyenne of nutritional management in EB, Lesley Haynes, from Great Ormond Street Hospital in London, has delivered a wonderful overview of a vital area that most nutritionists would find a challenge. Last but by no means least is the prequel to the future molecular therapy of EB, by Laimer and Bauer, addressing the possibilities for each type of EB and gene. In summary, if you are a dermatologist or clinician who encounters patients with EB—or any genodermatoses—this book is a must-have. It is a bargain for the price, and it is evident that this was a labor of love to assemble.