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Life with Epidermolysis Bullosa (EB)
Etiology, Diagnosis, Multidisciplinary Care and Therapy
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Main description:

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.


First comprehensive presentation of a multidisciplinary approach to the treatment of Epidermolysis Bullosa

Update on the therapy of this inherited disease

Practical reference for day-to-day care and its many complications

Richly illustrated with clinical photographs, tables and algorithms



1. General Aspects

1.1. Definition

1.2. Molecular Genetic Background with Classifications

1.3. Types of EB

1.4. Diagnosis

1.4.1. Histopathology

1.4.2. Antigen mapping

1.4.3. Electron Microscopy

1.4.4. Mutation Analysis

1.5. Prenatal and Preimplantation Diagnosis

1.6. Epidemiology

1.7. Economics

1.8. Social Aspects

1.9. Inheritance - Genetic Counseling

2. Therapy

2.1. Interdisciplinary management, teledermatology, telemedicine

2.2. Skin

2.2.1. Avoiding blisters - handling of newborns

2.2.2. Cancer

2.2.3. Webbing/Contractures

2.3. Opthalmology

2.4. Gynecology

2.5. Gastro-Intestinal Tract

2.6. Genito-Urinary Tract

2.7. Dentistry

2.8. Ear/Nose/Throat

2.9. Orthopedics

2.10. Physical Therapy

2.11. Psychology and Psyhiatry

2.12. Respiratory Tract

2.13. Surgery

2.14. Pediatrics - Neonatology

2.15. Internal Medicine

2.16. Pain and Itch

2.17. Nutrition

2.18. Wound Healing - Wound Care

2.19. Gene Therapy

2.20. Complementary Medicine

2.21. EB and Sports

2.21. Therapy of aquired Bullous Autoimmune Diseases


ISBN-13: 9783211792704
Publisher: Springer (Springer Vienna)
Publication date: October, 2008
Pages: 359
Weight: 798g
Availability: POD
Subcategories: Dermatology, Diseases and Disorders, General, Genetics, Paediatrics and Neonatal
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