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Hypohidrotic ectodermal dysplasia(HED)

MedGen UID:
590621
Concept ID:
C0406701
Congenital Abnormality
Synonym: HED
SNOMED CT: Ectodermal dysplasia with hair-tooth-nail-sweating defect (239006001); Hypohidrotic ectodermal dysplasia (239006001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Related genes: EDARADD, EDAR, EDA
 
HPO: HP:0007607
Monarch Initiative: MONDO:0016535
Orphanet: ORPHA238468

Disease characteristics

Excerpted from the GeneReview: Hypohidrotic Ectodermal Dysplasia
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features. [from GeneReviews]
Authors:
J Timothy Wright  |  Dorothy K Grange  |  Mary Fete   view full author information

Additional description

From OMIM
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).  http://www.omim.org/entry/614941

Conditions with this feature

Hypohidrotic X-linked ectodermal dysplasia
MedGen UID:
57890
Concept ID:
C0162359
Disease or Syndrome
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
MedGen UID:
384046
Concept ID:
C1857052
Disease or Syndrome
A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
MedGen UID:
762105
Concept ID:
C3541517
Disease or Syndrome
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
MedGen UID:
854356
Concept ID:
C3887494
Disease or Syndrome
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.

Professional guidelines

PubMed

Mineroff J, Dowling JR, Golbari NM, Wechter T, Jagdeo J
J Drugs Dermatol 2023 Nov 1;22(11):1130-1132. doi: 10.36849/JDD.7650. PMID: 37943264
Schneider H, Schweikl C, Faschingbauer F, Hadj-Rabia S, Schneider P
Int J Mol Sci 2023 Apr 12;24(8) doi: 10.3390/ijms24087155. PMID: 37108325Free PMC Article
Huttner K
Am J Med Genet A 2014 Oct;164A(10):2433-6. Epub 2014 Mar 26 doi: 10.1002/ajmg.a.36499. PMID: 24678015

Recent clinical studies

Etiology

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
Wohlfart S, Meiller R, Hammersen J, Park J, Menzel-Severing J, Melichar VO, Huttner K, Johnson R, Porte F, Schneider H
Orphanet J Rare Dis 2020 Jan 10;15(1):7. doi: 10.1186/s13023-019-1288-x. PMID: 31924237Free PMC Article
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
Fete M, Hermann J, Behrens J, Huttner KM
Am J Med Genet A 2014 Oct;164A(10):2437-42. Epub 2014 Mar 24 doi: 10.1002/ajmg.a.36436. PMID: 24664614
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

Diagnosis

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
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
Chandravanshi SL
Orbit 2020 Aug;39(4):298-301. Epub 2019 Nov 6 doi: 10.1080/01676830.2019.1688358. PMID: 31694435
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
Champlin TL, Mallory SB
J Ark Med Soc 1989 Aug;86(3):115-7. PMID: 2528538

Therapy

Mineroff J, Dowling JR, Golbari NM, Wechter T, Jagdeo J
J Drugs Dermatol 2023 Nov 1;22(11):1130-1132. doi: 10.36849/JDD.7650. PMID: 37943264
Schneider H, Hadj-Rabia S, Faschingbauer F, Bodemer C, Grange DK, Norton ME, Cavalli R, Tadini G, Stepan H, Clarke A, Guillén-Navarro E, Maier-Wohlfart S, Bouroubi A, Porte F
Genes (Basel) 2023 Jan 6;14(1) doi: 10.3390/genes14010153. PMID: 36672894Free PMC Article
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
Schneider H, Faschingbauer F, Schuepbach-Mallepell S, Körber I, Wohlfart S, Dick A, Wahlbuhl M, Kowalczyk-Quintas C, Vigolo M, Kirby N, Tannert C, Rompel O, Rascher W, Beckmann MW, Schneider P
N Engl J Med 2018 Apr 26;378(17):1604-1610. doi: 10.1056/NEJMoa1714322. PMID: 29694819
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

Wohlfart S, Meiller R, Hammersen J, Park J, Menzel-Severing J, Melichar VO, Huttner K, Johnson R, Porte F, Schneider H
Orphanet J Rare Dis 2020 Jan 10;15(1):7. doi: 10.1186/s13023-019-1288-x. PMID: 31924237Free PMC Article
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
Wünsche S, Jüngert J, Faschingbauer F, Mommsen H, Goecke T, Schwanitz K, Stepan H, Schneider H
Ultraschall Med 2015 Aug;36(4):381-5. Epub 2014 Aug 20 doi: 10.1055/s-0034-1384933. PMID: 25140498
Huttner K
Am J Med Genet A 2014 Oct;164A(10):2433-6. Epub 2014 Mar 26 doi: 10.1002/ajmg.a.36499. PMID: 24678015
Tanner BA
Birth Defects Orig Artic Ser 1988;24(2):263-75. PMID: 3052620

Clinical prediction guides

Yu K, Huang C, Wan F, Jiang C, Chen J, Li X, Wang F, Wu J, Lei M, Wu Y
Nat Commun 2023 Feb 11;14(1):767. doi: 10.1038/s41467-023-36367-6. PMID: 36765055Free 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
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
Tanner BA
Birth Defects Orig Artic Ser 1988;24(2):263-75. PMID: 3052620

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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