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

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. 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 worldś 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 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 causes 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, this book will provide the primary source for clinical informations of this oftentimes severe multiorgan disease Front Matter....Pages I-XX General Aspects....Pages 1-95 Clinical Manifestations and Complications....Pages 97-208 Therapeutical Approaches....Pages 209-308 Living with EB....Pages 309-333 Back Matter....Pages 335-338 Jo-david Fine, Helmut Hintner (eds.). Includes Bibliographical References And Index.