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LIBRERIA STUDIUM
Libreria medica internazionale
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LIBRERIA STUDIUM
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Multidisciplinary Approach to Ectodermal Dysplasia
Tadini, Wright, Hadj-Rabia, Schneider
Editore
Springer
Anno
2024
Pagine
204
ISBN
9783031757891
140,00 €

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I prezzi indicati possono subire variazioni poiché soggetti all'oscillazione dei cambi delle valute e/o agli aggiornamenti effettuati dagli Editori.

Ectodermal Dysplasias (ED) are a diverse group of genetic disorders characterized by congenital defects of two or more ectodermal structures (e.g., sweat gland, tooth, nail, hair), that count about 100 different manifestations. Therefore, the multidisciplinary aspect is a novel but crucial approach to correctly diagnose and treat this kind of diseases and eventually direct patients to specialized centers. A new classification has been proposed as well as new therapeutic options, such as the first prenatal protein replacement therapy for a genetic disease, X-linked hypohidrotic ectodermal dysplasia. The chapters of this book address all relevant topics, starting with epidemiology and embryology, disease classification, molecular biology, EDA1-associated ED, WNT10A-related ED, and p63-related ED. A chapter on ED caused by defects of structural proteins is included and one specifically devoted to differential diagnoses. Specific chapters describe diagnostic assessments and treatment: odontostomatological signs and therapy, ophthalmological or otorhinolaringoiatric signs, other organ involvement, neurological and neuropsychological issues. The final part is dedicated to the most recent developments in molecular therapy and the extremely important role of parents' and patients' associations.
Written by internationally renowned experts, this handy resource will be of valuable help for a variety of specialists who deal with ectodermal dysplasias in their daily clinical work, e.g., pediatricians, dermatologists, ENT-specialists, dentists.

  1. Front Matter

    Pages i-xxi

    Download chapter PDF

  2. Epidemiology of Ectodermal Dysplasias

    • Lidia Pezzani, Donatella Milani

    Pages 1-3

  3. What Is and Isn’t an Ectodermal Dysplasia?

    • Nicolai Peschel, Holm Schneider

    Pages 5-23

  4. X-Linked Hypohidrotic Ectodermal Dysplasia: The Pathogenic Role of the EDA Gene

    • Debora Vergani, Giulia Gori, Giovanna Traficante

    Pages 25-36

  5. X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical Features

    • Átila Visinoni, Nina Pagnan

    Pages 37-50

  6. Incontinentia Pigmenti

    • Alessandra Pescatore, Matilde Valeria Ursini, Francesca Fusco

    Pages 51-60

  7. Genetic Basis and Molecular Diagnosis of p63-Associated Ectodermal Dysplasia

    • Daniela Di Girolamo, Caterina Missero

    Pages 61-80

  8. Focal Dermal Hypoplasia (FDH) and WNT10A-Related Ectodermal Dysplasia (ED)

    • Alessandra Gelmetti, Gianluca Tadini

    Pages 81-93

  9. Nectinopathies: Ectodermal Dysplasia Syndromes Caused by Mutations in PVRL1/4 Genes Encoding Cell Adhesion Molecules Nectins-1/4

    • Paola Fortugno, Francesco Brancati

    Pages 95-105

  10. Other Syndromes with Prominent Ectodermal Dysplasia Signs

    • Gianluca Tadini, Beatrice Carcano, Michela Brena

    Pages 107-124

  11. Ectodermal Dysplasias: Orofacial Manifestations and Management

    • B. Meyer, John Timothy Wright

    Pages 125-145

  12. Oral and Dental Phenotype of Ectodermal Dysplasias

    • Johanna Norderyd, Hilde Nordgarden

    Pages 147-162

  13. Ocular Manifestation in Hypohidrotic Ectodermal Dysplasia

    • Michele Callea, Vito Romano, Stefano Bignotti, Stefano Pensiero, Colin Eric Willoughby

    Pages 163-172

  14. Otorhinolaryngologic Manifestations in Hypohidrotic Ectodermal Dysplasia

    • Michele Callea, Piercesare Grimaldi, Roberto Teggi

    Pages 173-176

  15. Broad Phenotypic Spectrum of Ectodermal Dysplasias in Childhood and Adolescence

    • Laura Guazzarotti

    Pages 177-182

  16. ED Practical Management

    • Gianluca Tadini, Michela Brena

    Pages 183-188

  17. Molecular Therapies

    • Holm Schneider, Pascal Schneider

    Pages 189-196

  18. Patient Advocacy Organizations: One Story of Success

    • Mary Fete

    Pages 197-204

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