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Hypohidrotic ectodermal dysplasia(HED)

MedGen UID:
310309
Concept ID:
C1706004
Congenital Abnormality
Synonyms: Christ-Siemans-Touraine syndrome; CST syndrome; Ectodermal dysplasia 1, anhidrotic; HED
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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
Sources: HPO, OMIM, 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
Sources: HPO, OMIM, 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.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
X-linked recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Anhidrotic ectodermal dysplasia (7731005); Anhidrotic ectodermal dysplasia syndrome (7731005)
 
Related genes: EDARADD, EDAR, EDA
HPO: HP:0007476
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, and 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

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, and 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.
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
MedGen UID:
96067
Concept ID:
C0406702
Congenital Abnormality
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, and 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.
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 (subjective hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, and hypoplastic breasts and/or nipples. 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, hypospadias, trismus, and excessive freckling.
Deafness with anhidrotic ectodermal dysplasia
MedGen UID:
342202
Concept ID:
C1852279
Disease or Syndrome
Ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia
MedGen UID:
384046
Concept ID:
C1857052
Disease or Syndrome
Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum
MedGen UID:
347363
Concept ID:
C1857053
Disease or Syndrome
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
MedGen UID:
394295
Concept ID:
C2677481
Disease or Syndrome
Mutations in the NFKBIA gene result in functional impairment of NFKB1 (164011), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).
Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant
MedGen UID:
762105
Concept ID:
C3541517
Disease or Syndrome
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). For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see 305100.

Recent clinical studies

Etiology

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
Fraiz FC, Gugisch RC, Cavalcante-Leão BL, Macedo LM
J Contemp Dent Pract 2014 Nov 1;15(6):788-91. PMID: 25825110
Zou D, Wu Y, Wang XD, Huang W, Zhang Z, Zhang Z
J Oral Implantol 2014 Oct;40(5):571-80. doi: 10.1563/AAID-JOI-D-12-00162. PMID: 25295888
Burger K, Schneider AT, Wohlfart S, Kiesewetter F, Huttner K, Johnson R, Schneider H
Am J Med Genet A 2014 Oct;164A(10):2424-32. Epub 2014 Apr 8 doi: 10.1002/ajmg.a.36541. PMID: 24715423
Suda N, Bazar A, Bold O, Jigjid B, Garidkhuu A, Ganburged G, Moriyama K
Orthod Craniofac Res 2010 May;13(2):114-7. doi: 10.1111/j.1601-6343.2010.01484.x. PMID: 20477971

Diagnosis

Ma X, Lv X, Liu HY, Wu X, Wang L, Li H, Chou HY
J Clin Lab Anal 2018 Nov;32(9):e22593. Epub 2018 Jul 13 doi: 10.1002/jcla.22593. PMID: 30006944
Wu T, Yin B, Zhu Y, Li G, Ye L, Liang D, Zeng Y
Clin Chim Acta 2017 Dec;475:78-84. Epub 2017 Oct 14 doi: 10.1016/j.cca.2017.10.010. PMID: 29037841
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
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
Henningsen E, Svendsen MT, Lildballe DL, Jensen PK
Am J Med Genet A 2014 Aug;164A(8):2059-61. Epub 2014 Apr 24 doi: 10.1002/ajmg.a.36582. PMID: 24764207

Therapy

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
Zou D, Wu Y, Wang XD, Huang W, Zhang Z, Zhang Z
J Oral Implantol 2014 Oct;40(5):571-80. doi: 10.1563/AAID-JOI-D-12-00162. PMID: 25295888
Sgontzou T, Armyra K, Kouris A, Bokotas C, Kontochristopoulos G
J Cosmet Laser Ther 2014 Dec;16(6):293-5. Epub 2014 Aug 13 doi: 10.3109/14764172.2014.948454. PMID: 25065417
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

Xu XG, Lv Y, Yan H, Qu L, Xiao T, Geng L, He CD, Liu CX, Gao XH, Li YH, Chen HD
Acta Derm Venereol 2017 Aug 31;97(8):984-985. doi: 10.2340/00015555-2695. PMID: 28498389
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
Fraiz FC, Gugisch RC, Cavalcante-Leão BL, Macedo LM
J Contemp Dent Pract 2014 Nov 1;15(6):788-91. PMID: 25825110
Zou D, Wu Y, Wang XD, Huang W, Zhang Z, Zhang Z
J Oral Implantol 2014 Oct;40(5):571-80. doi: 10.1563/AAID-JOI-D-12-00162. PMID: 25295888

Clinical prediction guides

Ma X, Lv X, Liu HY, Wu X, Wang L, Li H, Chou HY
J Clin Lab Anal 2018 Nov;32(9):e22593. Epub 2018 Jul 13 doi: 10.1002/jcla.22593. PMID: 30006944
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
Waluk DP, Zur G, Kaufmann R, Welle MM, Jagannathan V, Drögemüller C, Müller EJ, Leeb T, Galichet A
G3 (Bethesda) 2016 Sep 8;6(9):2949-54. doi: 10.1534/g3.116.033225. PMID: 27449516Free 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
Jones KB, Goodwin AF, Landan M, Seidel K, Tran DK, Hogue J, Chavez M, Fete M, Yu W, Hussein T, Johnson R, Huttner K, Jheon AH, Klein OD
Am J Med Genet A 2013 Jul;161A(7):1585-93. Epub 2013 May 17 doi: 10.1002/ajmg.a.35959. PMID: 23687000Free PMC Article

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