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Hypohidrotic Ectodermal Dysplasia, Dominant

MedGen UID:
893601
•Concept ID:
CN239335
•
Disease or Syndrome

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: 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
KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.
Shamseldin HE, Khalifa O, Binamer YM, Almutawa A, Arold ST, Zaidan H, Alkuraya FS
Hum Genet 2017 Jan;136(1):99-105. Epub 2016 Nov 12 doi: 10.1007/s00439-016-1741-z. PMID: 27838789
Hair shaft structures in EDAR induced ectodermal dysplasia.
Stecksén-Blicks C, Falk Kieri C, Hägg D, Schmitt-Egenolf M
BMC Med Genet 2015 Sep 4;16:79. doi: 10.1186/s12881-015-0227-5. PMID: 26336973Free PMC Article
EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.
Kieri CF, Bergendal B, Lind LK, Schmitt-Egenolf M, Stecksén-Blicks C
BMC Med Genet 2014 May 16;15:57. doi: 10.1186/1471-2350-15-57. PMID: 24884697Free PMC Article

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
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
Incontinentia pigmenti: a window to the role of NF-kappaB function.
Bruckner AL
Semin Cutan Med Surg 2004 Jun;23(2):116-24. doi: 10.1016/j.sder.2004.01.005. PMID: 15295921
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

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
Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasia.
Fujikawa H, Farooq M, Fujimoto A, Ito M, Shimomura Y
Br J Dermatol 2013 Mar;168(3):629-33. Epub 2012 Dec 13 doi: 10.1111/bjd.12018. PMID: 22924441
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

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
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
EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.
Kieri CF, Bergendal B, Lind LK, Schmitt-Egenolf M, Stecksén-Blicks C
BMC Med Genet 2014 May 16;15:57. doi: 10.1186/1471-2350-15-57. PMID: 24884697Free PMC Article
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
X-chromosome inactivation: role in skin disease expression.
Happle R
Acta Paediatr Suppl 2006 Apr;95(451):16-23. doi: 10.1080/08035320600618775. PMID: 16720460

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