Life with Epidermolysis Bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy / Edition 1

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Overview

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.

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Editorial Reviews

Doody's Review Service
Reviewer: Patricia Wong, MD (Stanford University Medical Center)
Description: This is an outstanding reference on all aspects of treating patients with epidermolysis bullosa (EB). The authors have produced a wonderful resource on taking care of EB patients emotionally and where to find support groups, while painstakingly covering all the complications these patients face. The phrase, "the heartbreak of psoriasis," was obviously coined by someone ignorant of the pain and suffering EB patients deal with every day. Chapters on etiology and immunology of the disease are excellent. The genetics of EB could have been explained in a simpler manner; there could have been a more elementary presentation of mosaicism and revertent mutations.
Purpose: The purpose is to teach dermatologists how to care for EB patients and provide current information on the disease process.
Audience: The audience is dermatologists.
Features: There are many color photographs showing the syndactylies, scarring, cancers, etc., that EB patients experience. There are also photos of smiling EB patients living their lives, doing activities that they enjoy. Reading this book, I was very moved by the hardships these patients endure. We dermatologists can make a significant difference in these patients' lives and this book provides the information and tools that we need to make this happen. If you don't feel changed after reading what the authors share with you, I would suggest you need to examine why you are a dermatologist.
Assessment: This superb reference on EB has no competitor. I learned more from this book than I did doing my residency at Stanford University, which at the time had a clinic devoted to epidermolysis bullosa. I highly recommend this to anyone who is treating these patients, and to all dermatologists who need to be aware of these special patients.
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Product Details

  • ISBN-13: 9783211999349
  • Publisher: Springer Vienna
  • Publication date: 4/6/2011
  • Edition description: Softcover reprint of hardcover 1st ed. 2009
  • Edition number: 1
  • Pages: 338
  • Product dimensions: 0.75 (w) x 6.69 (h) x 9.61 (d)

Table of Contents

Forewords

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

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