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Autosomal hypohidrotic ectodermal dysplasia

MedGen UID:
468426
•Concept ID:
CN118829
•
Disease or Syndrome
Related genes: EDARADD, EDAR

Professional guidelines

PubMed

Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.
Güven Y, Bal E, Altunoglu U, Yücel E, Hadj-Rabia S, Koruyucu M, Bahar Tuna E, Çıldır Ş, Aktören O, Bodemer C, Uyguner ZO, Smahi A, Kayserili H
Cytogenet Genome Res 2019;157(4):189-196. Epub 2019 Apr 12 doi: 10.1159/000499325. PMID: 30974434
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.
Petersheim D, Massaad MJ, Lee S, Scarselli A, Cancrini C, Moriya K, Sasahara Y, Lankester AC, Dorsey M, Di Giovanni D, Bezrodnik L, Ohnishi H, Nishikomori R, Tanita K, Kanegane H, Morio T, Gelfand EW, Jain A, Secord E, Picard C, Casanova JL, Albert MH, Torgerson TR, Geha RS
J Allergy Clin Immunol 2018 Mar;141(3):1060-1073.e3. Epub 2017 Jun 17 doi: 10.1016/j.jaci.2017.05.030. PMID: 28629746Free PMC Article

Recent clinical studies

Etiology

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
Hypohidrotic Ectodermal Dysplasia: A Rare Disorder With Bilateral Infantile Glaucoma.
Dubey S, Bhoot M, Jain K
J Glaucoma 2019 Apr;28(4):e58-e60. doi: 10.1097/IJG.0000000000001156. PMID: 30540672
Hypohidrotic ectodermal dysplasia: clinical and molecular review.
Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, Méndez-Catalá CF, Méndez-Cruz AR, Pozo-Molina G
Int J Dermatol 2018 Aug;57(8):965-972. Epub 2018 May 31 doi: 10.1111/ijd.14048. PMID: 29855039
Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy.
Blüschke G, Nüsken KD, Schneider H
Early Hum Dev 2010 Jul;86(7):397-9. Epub 2010 Jun 1 doi: 10.1016/j.earlhumdev.2010.04.008. PMID: 20682465
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.
Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière MC, Schmittbuhl M
Clin Genet 2010 Sep;78(3):257-66. Epub 2010 Feb 24 doi: 10.1111/j.1399-0004.2010.01376.x. PMID: 20236127

Diagnosis

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
Prenatal Genetic Testing for X-Linked Hypohidrotic Ectodermal Dysplasia.
Yapijakis C, Gintoni I, Chrousos G
Adv Exp Med Biol 2021;1339:337-340. doi: 10.1007/978-3-030-78787-5_41. PMID: 35023123
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.
Güven Y, Bal E, Altunoglu U, Yücel E, Hadj-Rabia S, Koruyucu M, Bahar Tuna E, Çıldır Ş, Aktören O, Bodemer C, Uyguner ZO, Smahi A, Kayserili H
Cytogenet Genome Res 2019;157(4):189-196. Epub 2019 Apr 12 doi: 10.1159/000499325. PMID: 30974434
Hypohidrotic ectodermal dysplasia: clinical and molecular review.
Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, Méndez-Catalá CF, Méndez-Cruz AR, Pozo-Molina G
Int J Dermatol 2018 Aug;57(8):965-972. Epub 2018 May 31 doi: 10.1111/ijd.14048. PMID: 29855039
Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome.
Walpole IR, Goldblatt J
Clin Genet 1991 Feb;39(2):114-20. doi: 10.1111/j.1399-0004.1991.tb02996.x. PMID: 2015692

Therapy

Hypohidrotic ectodermal dysplasia with atrophic rhinitis and nasal myiasis.
Madana J, Yolmo D, Gopalakrishnan S, Saxena SK, Nath AK, Ilamaran V
Int J Pediatr Otorhinolaryngol 2009 Oct;73(10):1467-9. Epub 2009 Jul 18 doi: 10.1016/j.ijporl.2009.06.012. PMID: 19616858

Prognosis

Hypohidrotic Ectodermal Dysplasia: A Rare Disorder With Bilateral Infantile Glaucoma.
Dubey S, Bhoot M, Jain K
J Glaucoma 2019 Apr;28(4):e58-e60. doi: 10.1097/IJG.0000000000001156. PMID: 30540672
Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a.
He F, Wang H, Zhang X, Gao Q, Guo F, Chen C
BMC Med Genet 2018 Dec 7;19(1):209. doi: 10.1186/s12881-018-0726-2. PMID: 30526585Free PMC Article
Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy.
Blüschke G, Nüsken KD, Schneider H
Early Hum Dev 2010 Jul;86(7):397-9. Epub 2010 Jun 1 doi: 10.1016/j.earlhumdev.2010.04.008. PMID: 20682465
Hypohidrotic ectodermal dysplasia with atrophic rhinitis and nasal myiasis.
Madana J, Yolmo D, Gopalakrishnan S, Saxena SK, Nath AK, Ilamaran V
Int J Pediatr Otorhinolaryngol 2009 Oct;73(10):1467-9. Epub 2009 Jul 18 doi: 10.1016/j.ijporl.2009.06.012. PMID: 19616858
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J
Nat Genet 1999 Aug;22(4):366-9. doi: 10.1038/11937. PMID: 10431241

Clinical prediction guides

Hypohidrotic Ectodermal Dysplasia: A Rare Disorder With Bilateral Infantile Glaucoma.
Dubey S, Bhoot M, Jain K
J Glaucoma 2019 Apr;28(4):e58-e60. doi: 10.1097/IJG.0000000000001156. PMID: 30540672
Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy.
Blüschke G, Nüsken KD, Schneider H
Early Hum Dev 2010 Jul;86(7):397-9. Epub 2010 Jun 1 doi: 10.1016/j.earlhumdev.2010.04.008. PMID: 20682465
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.
Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière MC, Schmittbuhl M
Clin Genet 2010 Sep;78(3):257-66. Epub 2010 Feb 24 doi: 10.1111/j.1399-0004.2010.01376.x. PMID: 20236127
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.
Lind LK, Stecksén-Blicks C, Lejon K, Schmitt-Egenolf M
BMC Med Genet 2006 Nov 24;7:80. doi: 10.1186/1471-2350-7-80. PMID: 17125505Free PMC Article
Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia.
Cambiaghi S, Restano L, Pääkkönen K, Caputo R, Kere J
Arch Dermatol 2000 Feb;136(2):217-24. doi: 10.1001/archderm.136.2.217. PMID: 10677098

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