Detecto EB-15-215 Manual do Utilizador descarregar pdf (Página 14)

Prof. Dr. Jo-David Fine, M.D., M.P.H., FRCP

Actualmente es Profesor de Medicina, Dermatología y Pediatría en la Van-

derbilt University School of Medicine de Nashville, TN. Antes fue Profesor

de Dermatología y Epidemiología en la University of North Carolina en

Chapel Hill, y es también Director del National (EE.UU.) Epidermolysis

Bullosa Registry, el mayor registro de pacientes con esta rara enfermedad

que existe en todo el mundo. Es autor de más de 230 artículos de revistas y

capítulos de libros, y ha editado anteriormente dos libros sobre EB.

Univ.-Prof. Prim. Dr. Helmut Hintner

Profesor de Dermatología; estudió medicina e hizo la residencia en Dermato-

logía en Innsbruck, Austria; Director del Departamento de Dermatología en

la Universidad Privada de Medicina de Salzburgo, Austria; especialista en ge-

nética humana; Profesor Honorario de Biología molecular en medicina (Ins-

tituto de Genética de la Universidad de Ciencias Naturales de Salzburgo);

numerosas publicaciones y organización de talleres, simposios y reuniones

sobre epidermólisis bullosa y otras enfermedades hereditarias, así como tam-

bién sobre enfermedades ampollosas de la piel adquiridas.

Life with Epidermolysis Bullosa (EB)

Jo-David Fine

Helmut Hintner

Editors

Fine · Hintner Eds.

›

springer.at

ISBN 978-3-211-79270-4

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 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.

Prof. Dr. Jo-David Fine, M.D., M.P.H., FRCP

is currently Professor of Medicine, Dermatology, and Pediatrics at the

Vanderbilt University School of Medicine in Nashville, TN. Formerly

Professor of Dermatology and Epidemiology at the University of

North Carolina in Chapel Hill, he is also Head of the National (USA)

Epidermolysis Bullosa Registry, the world's largest patient registry on

this rare disease. He has authored over 230 journal articles and book

chapters, and has edited two previous books related to EB.

Univ.-Prof. Prim. Dr. Helmut Hintner

Professor of Dermatology; medical studies and residency in

Dermatology in Innsbruck, Austria; Chairman of the Department of

Dermatology, Paracelsus Private Medical University Salzburg, Austria,

specialist in human genetics, Honorary Professor for Molecular Biology

in Medicine (Institute for Genetics of the University of Natural Sciences,

Salzburg); numerous publications and organization of workshops,

symposia and meetings focusing on epidermolysis bullosa and other

hereditary disorders as well as on acquired bullous diseases of the skin.