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Anhidrotic ectodermal dysplasia

MedGen UID:
310309
Concept ID:
C1706004
Congenital Abnormality
Synonyms: Anhidrotic Ectodermal Dysplasia; Anhidrotic Ectodermal Dysplasias; Anhidrotic, Ectodermal Dysplasia; Anhidrotics, Ectodermal Dysplasia; Anhydrotic Ectodermal Dysplasia; Anhydrotic Ectodermal Dysplasias; Dysplasia Anhidrotic, Ectodermal; Dysplasia Anhidrotics, Ectodermal; Dysplasia, Anhidrotic Ectodermal; Dysplasia, Anhydrotic Ectodermal; Dysplasias, Anhidrotic Ectodermal; Dysplasias, Anhydrotic Ectodermal; Ectodermal Dysplasia Anhidrotic; Ectodermal Dysplasia, Anhidrotic; Ectodermal Dysplasia, Anhydrotic; Ectodermal Dysplasias, Anhidrotic; Ectodermal Dysplasias, Anhydrotic
SNOMED CT: Anhidrotic ectodermal dysplasia (7731005); Anhidrotic ectodermal dysplasia syndrome (7731005)
 
HPO: HP:0007476

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Anhidrotic ectodermal dysplasia

Conditions with this feature

Rapp-Hodgkin ectodermal dysplasia syndrome
MedGen UID:
315656
Concept ID:
C1785148
Disease or Syndrome
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.
Deafness with anhidrotic ectodermal dysplasia
MedGen UID:
342202
Concept ID:
C1852279
Disease or Syndrome
Ectodermal dysplasia and immunodeficiency 2
MedGen UID:
394295
Concept ID:
C2677481
Disease or Syndrome
EDAID2 is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity (summary by Boisson et al., 2017). Mutations in the NFKBIA gene result in functional impairment of NFKB (see 164011), a master transcription factor required for normal activation of immune responses. Interruption of NFKB signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007). For discussion of genetic heterogeneity of ectodermal dysplasia and immune deficiency, see 300291.

Professional guidelines

PubMed

Çakan M, Karadağ ŞG, Ayaz NA
Clin Rheumatol 2021 Feb;40(2):769-774. Epub 2020 Jul 12 doi: 10.1007/s10067-020-05287-x. PMID: 32656661
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
Kawai T, Nishikomori R, Heike T
Allergol Int 2012 Jun;61(2):207-17. doi: 10.2332/allergolint.12-RAI-0446. PMID: 22635013

Recent clinical studies

Etiology

Dusak A, Hafizoglu D, Kilic SS, Yazıcı Z
Acta Radiol 2020 Oct;61(10):1377-1387. Epub 2020 Jan 30 doi: 10.1177/0284185120901510. PMID: 32000505
Sonnesen L, Jasemi A, Gjørup H, Daugaard-Jensen J
Eur Arch Paediatr Dent 2018 Oct;19(5):331-336. Epub 2018 Aug 20 doi: 10.1007/s40368-018-0362-8. PMID: 30128696
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
Vasconcelos Carvalho M, Romero Souto de Sousa J, Paiva Correa de Melo F, Fonseca Faro T, Nunes Santos AC, Carvalho S, Veras Sobral AP
Dermatol Online J 2013 Jul 14;19(7):18985. PMID: 24010518
Drögemüller C, Distl O, Leeb T
Genet Sel Evol 2003;35 Suppl 1(Suppl 1):S137-45. doi: 10.1186/1297-9686-35-S1-S137. PMID: 12927086Free PMC Article

Diagnosis

Çakan M, Karadağ ŞG, Ayaz NA
Clin Rheumatol 2021 Feb;40(2):769-774. Epub 2020 Jul 12 doi: 10.1007/s10067-020-05287-x. PMID: 32656661
Dusak A, Hafizoglu D, Kilic SS, Yazıcı Z
Acta Radiol 2020 Oct;61(10):1377-1387. Epub 2020 Jan 30 doi: 10.1177/0284185120901510. PMID: 32000505
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
Kawai T, Nishikomori R, Heike T
Allergol Int 2012 Jun;61(2):207-17. doi: 10.2332/allergolint.12-RAI-0446. PMID: 22635013
Ersek RA, Labandter H, King L
Plast Reconstr Surg 1980 Apr;65(4):487-91. doi: 10.1097/00006534-198004000-00015. PMID: 7360816

Therapy

Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
Orphanet J Rare Dis 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. PMID: 36253866Free PMC Article
Bardou MLD, Henriques MT, Grumach AS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. Epub 2020 Dec 19 doi: 10.1016/j.jped.2020.10.015. PMID: 33347837Free PMC Article
Silverberg N
Clin Dermatol 2020 Jul-Aug;38(4):462-466. Epub 2020 Mar 24 doi: 10.1016/j.clindermatol.2020.03.006. PMID: 32972604
Yamasaki F, Takayasu T, Nosaka R, Kawaguchi H, Sugiyama K, Kobayashi M, Kurisu K
Childs Nerv Syst 2016 Feb;32(2):395-8. Epub 2015 Aug 1 doi: 10.1007/s00381-015-2848-6. PMID: 26231569
Kaercher T, Dietz J, Jacobi C, Berz R, Schneider H
Curr Eye Res 2015 Sep;40(9):884-90. Epub 2014 Oct 13 doi: 10.3109/02713683.2014.967869. PMID: 25310457

Prognosis

Çakan M, Karadağ ŞG, Ayaz NA
Clin Rheumatol 2021 Feb;40(2):769-774. Epub 2020 Jul 12 doi: 10.1007/s10067-020-05287-x. PMID: 32656661
Anbouba GM, Carmany EP, Natoli JL
Am J Med Genet A 2020 Apr;182(4):831-841. Epub 2020 Jan 25 doi: 10.1002/ajmg.a.61493. PMID: 31981414
Zeng B, Lu H, Xiao X, Zhou L, Lu J, Zhu L, Yu D, Zhao W
Oral Dis 2015 Nov;21(8):994-1000. Epub 2015 Oct 24 doi: 10.1111/odi.12376. PMID: 26411740
Cui CY, Schlessinger D
Cell Cycle 2006 Nov 1;5(21):2477-83. Epub 2006 Sep 14 doi: 10.4161/cc.5.21.3403. PMID: 17102627Free PMC Article
Tay YK, Giam YC
J Singapore Paediatr Soc 1992;34(3-4):220-5. PMID: 1305666

Clinical prediction guides

Bardou MLD, Henriques MT, Grumach AS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. Epub 2020 Dec 19 doi: 10.1016/j.jped.2020.10.015. PMID: 33347837Free PMC Article
Peña-Romero AG, Sáez-de-Ocariz M, Toussaint-Caire S, Morán-Villaseñor E, Orozco-Covarrubias L, Durán-McKinster C
Pediatr Dermatol 2021 Mar;38(2):442-448. Epub 2020 Oct 21 doi: 10.1111/pde.14415. PMID: 33085121
Lévy J, Capri Y, Rachid M, Dupont C, Vermeesch JR, Devriendt K, Verloes A, Tabet AC, Bailleul-Forestier I
Clin Genet 2020 Apr;97(4):595-600. Epub 2020 Feb 17 doi: 10.1111/cge.13714. PMID: 32022899
Dusak A, Hafizoglu D, Kilic SS, Yazıcı Z
Acta Radiol 2020 Oct;61(10):1377-1387. Epub 2020 Jan 30 doi: 10.1177/0284185120901510. PMID: 32000505
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

Recent systematic reviews

Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
Orphanet J Rare Dis 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. PMID: 36253866Free PMC Article
Anbouba GM, Carmany EP, Natoli JL
Am J Med Genet A 2020 Apr;182(4):831-841. Epub 2020 Jan 25 doi: 10.1002/ajmg.a.61493. PMID: 31981414
Schnabl D, Grunert I, Schmuth M, Kapferer-Seebacher I
J Oral Rehabil 2018 Jul;45(7):555-570. Epub 2018 May 9 doi: 10.1111/joor.12638. PMID: 29679503

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