Life with Epidermolysis Bullosa (EB) [electronic resource] : Etiology, Diagnosis, Multidisciplinary Care and Therapy /
Fine, Jo-David.editor.
Hintner, Helmut.editor.
Epidermolysis bullosa (EB) is a heterogenous group of genodermatoses characterized by the formation of blisters and erosions on skin and mucous membranes 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 information of this oftentimes severe multiorgan disease.
Description based upon print version of record.
Includes bibliographical references and index.
Forewords -- General Aspects: Definition; Molecular Genetic Background with Classifications; Types of EB,- Diagnosis; Prenatal and Preimplantation Diagnosis; Epidemiology; Economics; Social Aspects; Inheritance - Genetic Counseling -- Therapy: Interdisciplinary management, teledermatology, telemedicine; Skin; Ophthalmology; Gynecology; Gastro-Intestinal Tract; Genito-Urinary Tract; Dentistry; Ear/Nose/Throat; Orthopedics; Physical Therapy; Psychology and Psychiatry; Respiratory Tract; Surgery; Pediatrics - Neonatology; Internal Medicine; Pain and Itch; Nutrition; Wound Healing - Wound Care; Gene Therapy; Complementary Medicine; EB and Sports; Therapy of acquired Bullous Autoimmune Diseases.-.
Epidermolysis bullosa (EB) is a heterogenous group of genodermatoses characterized by the formation of blisters and erosions on skin and mucous membranes 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 information of this oftentimes severe multiorgan disease.
Dermatology.
Pediatrics.
Internal medicine.
Surgery.
Human genetics.
Dermatology.
Pediatrics.
Internal Medicine.
Surgery.
Human Genetics.