Multidisciplinary Approach to Ectodermal Dysplasia
Springer International Publishing (Verlag)
978-3-031-75789-1 (ISBN)
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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.
Professor Gianluca Tadini, M.D., PhD., is pediatric dermatologist, coordinator of the Center of Inherited Cutaneous Diseases (University of Milan) at the Pediatric Dermatology Unit, fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico Milano. His main interests are genodermatoses, neuroectodermal disorders, as well as infectious and tropical diseases. After graduating cum laude from the Medical School of Surgery (University of Milan) he earned a post graduate title in Dermatology and Venereology and one in Tropical and Subtropical Diseases, both at the University of Milan. He was a fellow at the School of Medicine under Prof Farber and Prof Jacobs, then resident at the Dept of Dermatology, and Sexually Transmitted Diseases as well as a laboratory resident at the University of Milan. Later appointed Consultant Dermatologist at the L. Sacco University Hospital, in Milan, he is also contract professor and students' tutor at the Institute of Dermatological Sciences, School of Medicine and Surgery and postgraduate School of Dermatology and Venereology, University of Milan. Professor Tadini is member of the Ectodermal Dysplasia Board and has authored over 200 scientific papers, and 3 books. He gave lectures as a visiting professor, was member of the International Committee for the Classification of Ectodermal Dysplasias and Ichtyoses, and is a consultant at the Department of Pediatrics 1, University of Milan, since 2011.
Professor John Timothy Wright, Department of Pediatric Dentistry and Public Health Dentistry, University of North Carolina, has earned his dental degrees and specializations at The University of Alabama at Birmingham and West Virginia University. He has served as chair of the pediatric dentistry program, publishing over 200 peer reviewed manuscripts, edited two texts and authored 24 text chapters. Prof. Wright's research interests include human genetics and craniofacial development and he has had over 25 years of NIH funding. He has chaired the Council for Scientific Affairs for the American Dental Association and American Academy of Pediatric Dentistry, served as President of the American Association for Dental Research and is the current Editor in Chief for the Journal of the American Dental Association.
Professor Smail Hadj-Rabia MD, PhD, is resident doctor at the Department of Dermatology of the prestigious Hôpital Necker-Enfants Malades, APHP, Imagine Institute, Paris, France. He is involved in care and research in pediatric dermatology and rare skin diseases. He is a founding member of MAGEC, a French Center of Expertise for Rare Skin Diseases. He is an active partner of the Genodermatoses Network, the European and Mediterranean Network on rare skin diseases and the ERN-Skin network. Together with Holm Schneider he coordinates the subthematic group on ED in the ERN Skin.
Professor Holm Schneider is head of the German Center for Ectodermal Dysplasias at the University Hospital Erlangen. He obtained his M.D. from the University of Leipzig, Germany, and received German board certifications in general pediatrics, emergency medicine, and neonatology. He completed a long-term research fellowship at Imperial College London, U.K., established an independent research group at the University Hospital Erlangen, Germany, and was professor of experimental neonatology at Innsbruck Medical University, Austria, before returning to Erlangen in 2008. Since then, he has been working as professor of pediatrics and consultant pediatrician at the University Hospital Erlangen, where he set up the interdisciplinary Center for Ectodermal Dysplasias Erlangen (ZEDER), the German national reference center for ectodermal dysplasias and p63-associated disorders. He also coordinates the corresponding subthematic group in the ERN Skin.
Current research of his team is dedicated to novel therapeutic approaches to severe genodermatoses. Professor Schneider pioneered the prenatal drug therapy of genetic disea
Preface.- 1. Epidemiology of Ectodermal Dysplasias.- 2. What is and isn't an ectodermal dysplasia?.- 3. X-linked hypohidrotic ectodermal dysplasia: the pathogenic role of the EDA gene.- 4. X Linked-Hypohidrotic Ectodermal Dysplasia - Clinical Features.- 5. Incontinentia pigmenti.- 6. Genetic basis and molecular diagnosis of p63-associated ectodermal dysplasia.- 7. Focal Dermal Hypoplasia (FDH) and WNT10A-related ED.- 8. Nectinopathies: ectodermal dysplasia syndromes caused by mutations in PVRL1/4 genes encoding cell adhesion molecules nectins-1/4.- 9. Other syndromes with prominent ectodermal dysplasia signs.- 10. Ectodermal Dysplasias: Orofacial Manifestations and Management.- 11. Oral and dental phenotype in ectodermal dysplasias.- 12. Ocular manifestations in hypohidrotic ectodermal dysplasia.- 13. Othorynolaryngologic manifestations in hypohidrotic ectodermal dysplasia.- 14. Broad phenotypic spectrum of Ectodermal Dysplasias in childhood and adolescence.- 15. ED Practical Management.- 16. Molecular therapies.- 17. Patient Advocacy Organizations: One Story of Success.
| Erscheint lt. Verlag | 22.2.2025 |
|---|---|
| Zusatzinfo | Approx. 300 p. 11 illus. |
| Verlagsort | Cham |
| Sprache | englisch |
| Maße | 155 x 235 mm |
| Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete |
| Schlagworte | anhidrotic dysplasia • Ankyloblepharon • Cleft Lip/Palate • Ectrodactyly-ED-clefting syndrome • embryonic development • gene therapy • Genetic disorder • Genetic Mutation • hair dysplasia • Hay-Wells syndrome • hypohidrotic dysplasia • inherited skin disorders • Molecular Diagnosis • nail dysplasia • Pediatric Diseases • Rapp-Hodgkin hypohidrotic ED • Rare Diseases • sweat gland dysplasia • teeth dysplasia • Tooth Agenesis |
| ISBN-10 | 3-031-75789-0 / 3031757890 |
| ISBN-13 | 978-3-031-75789-1 / 9783031757891 |
| Zustand | Neuware |
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