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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
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.
Chaudhary AK, Gholse A, Nagarajaram HA, Dalal AB, Gupta N, Dutta AK, Danda S, Gupta R, Sankar HV, Bhavani GS, Girisha KM, Phadke SR, Ranganath P, Bashyam MD
Am J Med Genet A 2022 Mar;188(3):788-805. Epub 2021 Dec 4 doi: 10.1002/ajmg.a.62579. PMID: 34863015
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
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

Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis.
Andreoni F, Sgattoni C, Bencardino D, Simonetti O, Forabosco A, Magnani M
Mol Genet Genomic Med 2021 Jan;9(1):e1555. Epub 2020 Nov 18 doi: 10.1002/mgg3.1555. PMID: 33205897Free PMC Article
A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families.
Sadia, Foo JN, Khor CC, Jelani M, Ali G
J Gene Med 2019 Sep;21(9):e3113. Epub 2019 Aug 5 doi: 10.1002/jgm.3113. PMID: 31310406
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
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

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
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
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
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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