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

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Jo-David Fine, Helmut Hintner
Springer Science & Business Media, Apr 2, 2009 - Medical - 338 pages

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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Contents

11 Definition
3
12 Classification and molecular basis of hereditary epidermolysis bullosa
6
13 Epidemiology of inherited epidermolysis bullosa
24
14 DIAGNOSIS
30
1412 Antigen mapping
35
1413 Electron microscopy for the diagnosis of epidermolysis bullosa
43
142 MOLECULAR TECHNIQUES
54
1422 Mosaicism in epidermolysis bullosa
65
225 Musculoskeletal deformities
177
226 Other internal complications
185
227 Premature death in epidermolysis bullosa
197
228 Psychological and sociological aspects
204
31 DERMATOLOGIC AND MEDICAL
211
312 Pain management in epidermolysis bullosa
227
313 Pruritus in epidermolysis bullosa
233
32 debraaustria and the ebhaus Austria
241

1423 Prenatal and preimplantation genetic diagnosis in epidermolysis bullosa
77
143 Genetic counseling
89
21 CUTANEOUS
99
212 Epidermolysis bullosa naevi
107
213 Epidermolysis bullosa and cancer
116
22 EXTRACUTANEOUS
132
222 Ear nose and throat complications
143
223 Intraoral disease
150
224 Gastrointestinal complications
167
33 Surgical interventions
246
34 Nutritional support for children with epidermolysis bullosa
258
35 Physical medicine and epidermolysis bullosa
278
36 Molecular therapy of epidermolysis bullosa
287
41 Surveillance for extracutaneous complications
310
42 Living with EB impact on daily life
313
INDEX
335
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