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020 _a9783031757907
_9978-3-031-75790-7
024 7 _a10.1007/978-3-031-75790-7
_2doi
050 4 _aRL1-803
072 7 _aMJK
_2bicssc
072 7 _aMED017000
_2bisacsh
072 7 _aMJK
_2thema
245 1 0 _aMultidisciplinary Approach to Ectodermal Dysplasia
_h[electronic resource] /
_cedited by Gianluca Tadini, John Timothy Wright, Smaïl Hadj-Rabia, Holm Schneider.
250 _a1st ed. 2024.
264 1 _aCham :
_bSpringer Nature Switzerland :
_bImprint: Springer,
_c2024.
300 _aXXI, 204 p. 60 illus., 58 illus. in color.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
505 0 _aPreface -- 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.
520 _aEctodermal 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.
650 0 _aDermatology.
_972926
650 0 _aPediatrics.
_964087
650 0 _aMedical genetics.
_964976
650 0 _aInternal medicine.
650 0 _aFamily medicine.
_963339
650 1 4 _aDermatology.
_972926
650 2 4 _aPediatrics.
_964087
650 2 4 _aMedical Genetics.
_964976
650 2 4 _aInternal Medicine.
650 2 4 _aGeneral Practice and Family Medicine.
_973291
700 1 _aTadini, Gianluca.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
_990281
700 1 _aWright, John Timothy.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
_990282
700 1 _aHadj-Rabia, Smaïl.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
_990283
700 1 _aSchneider, Holm.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
_990284
710 2 _aSpringerLink (Online service)
773 0 _tSpringer Nature eBook
776 0 8 _iPrinted edition:
_z9783031757891
776 0 8 _iPrinted edition:
_z9783031757914
776 0 8 _iPrinted edition:
_z9783031757921
856 4 0 _uhttps://doi.org/10.1007/978-3-031-75790-7
912 _aZDB-2-SME
912 _aZDB-2-SXM
999 _c66421
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