Multidisciplinary Approach to Ectodermal Dysplasia, Gebunden
Multidisciplinary Approach to Ectodermal Dysplasia
(soweit verfügbar beim Lieferanten)
- Herausgeber:
- Gianluca Tadini, Holm Schneider, Smaïl Hadj-Rabia, John Timothy Wright
- Verlag:
- Springer Nature Switzerland, 01/2025
- Einband:
- Gebunden
- Sprache:
- Englisch
- ISBN-13:
- 9783031757891
- Artikelnummer:
- 12162617
- Umfang:
- 228 Seiten
- Gewicht:
- 551 g
- Maße:
- 241 x 160 mm
- Stärke:
- 18 mm
- Erscheinungstermin:
- 16.1.2025
- Hinweis
-
Achtung: Artikel ist nicht in deutscher Sprache!
Klappentext
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.
Biografie (Holm Schneider)
Holm Schneider, geboren 1969, arbeitet als Professor für Kinderheilkunde am Universitätsklinikum Erlangen und setzt sich seit vielen Jahren besonders für Kinder und Jugendliche mit Behinderungen ein. Der Vater von 5 Kindern ist ehrenamtlich in einem Sportverein für Menschen mit Down-Syndrom, in medizinischen Beiräten von Patienten-Selbsthilfegruppen sowie im Bundesvorstand der Aktion Lebensrecht für Alle e.V. tätig.