Provides a comprehensive presentation of the treatment of Epidermolysis Bullosa
Presents a multidisciplinary approach to the subject
Offers an update on the therapy of this inherited disease
Serves as a practical reference for day-to-day care and its many complications
Richly illustrated with clinical photographs, tables and algorithms
Epidermolysis bullosa (EB) is a heterogenous group of genodermatoses characterized by the formation of blisters and erosions on skin and mucous membrans from birth on. The cause are mutations in the genes of structural proteins of the junction between epidermis and dermis. This book deals with the treatment of this skin disease itself and its many extracutaneous complications. There is no previous book which has been focused on the therapy and it will be based on evidence-based data derived from the world s largest cohort of inherited EB-patients, the American EB Registry. An important chapter will discuss gene therapy in hereditary EB which has been recently successfully performed within a localized skin site on a single EB patient as a proof-of-principle test. Given its unique collective contents, the monograph will provide the primary source for clinical informations of this oftentimes severe multiorgan disease

1 GENERAL ASPECTS
1.1 Definition Christoph M. Lanschuetzer
1.2 Classification and molecular basis of hereditary epidermolysis bullosa Christoph M. Lanschuetzer, Jo-David Fine
1.3 Epidemiology of inherited epidermolysis bullosa Jo-David Fine
1.4 Diagnosis
1.4.1 Non-molecular techniques
1.4.1.1 Routine histopathology in epidermolysis bullosa Martin Laimer
1.4.1.2 Antigen mapping Gabriela Pohla-Gubo, Elke Nischler, Helmut Hintner
1.4.1.3 Electron microscopy for the diagnosis of epidermolysis bullosa Robin A. J. Eady
1.4.2 Molecular techniques
1.4.2.1 Mutation analysis Alfred Klausegger, Johann Bauer
1.4.2.2 Mosaicism in epidermolysis bullosa Martin Laimer
1.4.2.3 Prenatal and preimplantation genetic diagnosis in epidermolysis bullosa Hiva Fassihi, John McGrath
1.4.3 Genetic counseling Johann Bauer

2 CLINICAL MANIFESTATIONS AND COMPLICATIONS
2.1 Cutaneous
2.1.1 General cutaneous manifestations Jo-David Fine
2.1.2 Epidermolysis bullosa naevi Christoph M. Lanschuetzer
2.1.3 Epidermolysis bullosa and cancer Jo-David Fine, Christoph M. Lanschuetzer
2.2 Extracutaneous
2.2.1 Ophthalmologic aspects of epidermolysis bullosa Josef Stoiber
2.2.2 Ear, nose, and throat complications Martin Laimer
2.2.3 Intraoral disease Martin Laimer, Elke Nischler
2.2.4 Gastrointestinal complications Elke Nischler
2.2.5 Musculoskeletal deformities Jo-David Fine
2.2.6 Other internal complications Jo-David Fine
2.2.7 Premature death in epidermolysis bullosa Jo-David Fine
2.2.8 Psychological and sociological aspects Jo-David Fine

3 THERAPEUTICAL APPROACHES
3.1 Dermatologic and medical
3.1.1 Wound healing Christoph M. Lanschuetzer
3.1.2 Pain management in epidermolysis bullosa Elke Nischler
3.1.3 Pruritus in epidermolysis bullosa Elke Nischler, Anja Diem
3.2 debra-austria and the eb-haus Austria Gabriela Pohla-Gubo, Rainer Riedl, Helmut Hintner
3.3 Surgical interventions Barbara Ludwikowski
3.4 Nutritional support for children with epidermolysis bullosa Lesley Haynes
3.5 Physical medicine and epidermolysis bullosa Margret Burger-Rafael
3.6 Molecular therapy of epidermolysis bullosa Martin Laimer, Johann W. Bauer

4 LIVING WITH EB
4.1 Surveillance for extracutaneous complications Jo-David Fine
4.2 Living with EB impact on daily life Anja Diem

INDEX