04593nam a22005175i 4500001001800000003000900018005001700027007001500044008004100059020001800100024003500118050001200153072001600165072002300181072001500204245016500219250001800384264006900402300006500471336002600536337002600562338003600588347002400624505111100648520156101759650001703320650001603337650002203353650002303375650002103398650001703419650001603436650002203452650002303474650004203497700007903539700008303618700008203701700007803783710003403861773002603895776003603921776003603957776003603993856004604029978-3-031-75790-7DE-He21320251030114925.0cr nn 008mamaa250116s2024    sz |    s    |||| 0|eng d  a97830317579077 a10.1007/978-3-031-75790-72doi 4aRL1-803 7aMJK2bicssc 7aMED0170002bisacsh 7aMJK2thema10aMultidisciplinary Approach to Ectodermal Dysplasiah[electronic resource] /cedited by Gianluca Tadini, John Timothy Wright, Smaïl Hadj-Rabia, Holm Schneider.  a1st ed. 2024. 1aCham :bSpringer Nature Switzerland :bImprint: Springer,c2024.  aXXI, 204 p. 60 illus., 58 illus. in color.bonline resource.  atextbtxt2rdacontent  acomputerbc2rdamedia  aonline resourcebcr2rdacarrier  atext filebPDF2rda0 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.  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. 0aDermatology. 0aPediatrics. 0aMedical genetics. 0aInternal medicine. 0aFamily medicine.14aDermatology.24aPediatrics.24aMedical Genetics.24aInternal Medicine.24aGeneral Practice and Family Medicine.1 aTadini, Gianluca.eeditor.4edt4http://id.loc.gov/vocabulary/relators/edt1 aWright, John Timothy.eeditor.4edt4http://id.loc.gov/vocabulary/relators/edt1 aHadj-Rabia, Smaïl.eeditor.4edt4http://id.loc.gov/vocabulary/relators/edt1 aSchneider, Holm.eeditor.4edt4http://id.loc.gov/vocabulary/relators/edt2 aSpringerLink (Online service)0 tSpringer Nature eBook08iPrinted edition:z978303175789108iPrinted edition:z978303175791408iPrinted edition:z978303175792140uhttps://doi.org/10.1007/978-3-031-75790-7