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Hidrotic ectodermal dysplasia, Christianson-Fourie type

MedGen UID:
371322
Concept ID:
C1832411
Disease or Syndrome
Synonym: Ectodermal dysplasia, hidrotic, Christianson-Fourie type
SNOMED CT: Christianson Fourie syndrome (771239007); Hidrotic ectodermal dysplasia Christianson Fourie type (771239007)
Modes of inheritance:
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.
 
Monarch Initiative: MONDO:0011063
OMIM®: 601375
Orphanet: ORPHA1808

Definition

A rare ectodermal dysplasia syndrome with characteristics of tricho and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachycardia or sinus bradycardia. [from SNOMEDCT_US]

Clinical features

From HPO
Paroxysmal supraventricular tachycardia
MedGen UID:
18314
Concept ID:
C0030590
Disease or Syndrome
An episodic form of supraventricular tachycardia with abrupt onset and termination.
Bradycardia
MedGen UID:
140901
Concept ID:
C0428977
Finding
A slower than normal heart rate (in adults, slower than 60 beats per minute).
Absent eyebrow
MedGen UID:
98133
Concept ID:
C0431448
Congenital Abnormality
Absence of the eyebrow.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
Hidrotic ectodermal dysplasia syndrome
MedGen UID:
56416
Concept ID:
C0162361
Disease or Syndrome
Hidrotic ectodermal dysplasia 2, or Clouston syndrome (referred to as HED2 throughout this GeneReview) is characterized by a triad of major clinical features including partial-to-complete alopecia, nail dystrophy, and palmoplantar hyperkeratosis. Sweating is preserved and there are usually no dental anomalies. Sparse scalp hair and dysplastic nails are seen early in life. In infancy, scalp hair is fine, sparse, and brittle. Progressive hair loss may lead to total alopecia by puberty. The nails may be milky white in early childhood; they gradually become dystrophic, thick, and distally separated from the nail bed. Palmoplantar keratoderma may develop during childhood and increases in severity with age. Associated features may include cutaneous hyperpigmentation (particularly over the joints) and finger clubbing. The clinical manifestations are highly variable even within the same family.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Onychogryposis
MedGen UID:
82671
Concept ID:
C0263537
Disease or Syndrome
Nail that appears thick when viewed on end.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Fair hair
MedGen UID:
336542
Concept ID:
C1849221
Finding
A lesser degree of hair pigmentation than would otherwise be expected.
Sparse pubic hair
MedGen UID:
388095
Concept ID:
C1858573
Finding
Reduced number or density of pubic hair.
Sparse axillary hair
MedGen UID:
348975
Concept ID:
C1858574
Finding
Reduced number or density of axillary hair.
Short eyelashes
MedGen UID:
411272
Concept ID:
C2748682
Finding
Decreased length of the eyelashes (subjective).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHidrotic ectodermal dysplasia, Christianson-Fourie type
Follow this link to review classifications for Hidrotic ectodermal dysplasia, Christianson-Fourie type in Orphanet.

Professional guidelines

PubMed

Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG
Periodontol 2000 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. PMID: 31090139
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI
Am J Med Genet A 2019 Mar;179(3):442-447. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61045. PMID: 30703280Free PMC Article
Thavikulwat AT, Edward DP, AlDarrab A, Vajaranant TS
J Neurosci Res 2019 Jan;97(1):57-69. Epub 2018 Apr 1 doi: 10.1002/jnr.24241. PMID: 29607552

Recent clinical studies

Etiology

Palit A, Inamadar AC
Indian J Dermatol Venereol Leprol 2022 May-Jun;88(4):452-463. doi: 10.25259/IJDVL_799_20. PMID: 35138057
Jafry M, Sidbury R
Clin Dermatol 2020 Jul-Aug;38(4):455-461. Epub 2020 Apr 1 doi: 10.1016/j.clindermatol.2020.03.010. PMID: 32972603
Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG
Periodontol 2000 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. PMID: 31090139
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI
Am J Med Genet A 2019 Mar;179(3):442-447. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61045. PMID: 30703280Free PMC Article
Rosser T
Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):96-129. doi: 10.1212/CON.0000000000000562. PMID: 29432239

Diagnosis

Jafry M, Sidbury R
Clin Dermatol 2020 Jul-Aug;38(4):455-461. Epub 2020 Apr 1 doi: 10.1016/j.clindermatol.2020.03.010. PMID: 32972603
Becker B, Strowd RE 3rd
Dermatol Clin 2019 Oct;37(4):583-606. doi: 10.1016/j.det.2019.05.015. PMID: 31466597
Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG
Periodontol 2000 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. PMID: 31090139
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI
Am J Med Genet A 2019 Mar;179(3):442-447. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61045. PMID: 30703280Free PMC Article
Tartaglia M, Gelb BD, Zenker M
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002. PMID: 21396583Free PMC Article

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
Kandil SM, Soliman II, Diab HM, Bedair NI, Mahrous MH, Abdou EM
Drug Deliv 2022 Dec;29(1):534-547. doi: 10.1080/10717544.2022.2036872. PMID: 35156490Free PMC Article
Karaconji T, Whist E, Jamieson RV, Flaherty MP, Grigg JRB
Asia Pac J Ophthalmol (Phila) 2019 Jan-Feb;8(1):62-72. Epub 2018 Nov 2 doi: 10.22608/APO.2018182. PMID: 30387339
Bavle A, Shah R, Gross N, Gavula T, Ruiz-Elizalde A, Wierenga K, McNall-Knapp R
J Pediatr Hematol Oncol 2018 Oct;40(7):553-554. doi: 10.1097/MPH.0000000000001170. PMID: 29683947
Ullrich NJ
J Child Neurol 2016 Oct;31(12):1399-411. Epub 2015 Oct 12 doi: 10.1177/0883073815604220. PMID: 26459515

Prognosis

Chevalier B, Dupuis H, Jannin A, Lemaitre M, Do Cao C, Cardot-Bauters C, Espiard S, Vantyghem MC
Front Endocrinol (Lausanne) 2021;12:678869. Epub 2021 May 6 doi: 10.3389/fendo.2021.678869. PMID: 34025587Free PMC Article
Ganske IM, Irwin T, Langa O, Upton J 3rd, Tan WH, Mulliken JB
Cleft Palate Craniofac J 2021 Feb;58(2):237-243. Epub 2020 Aug 30 doi: 10.1177/1055665620949124. PMID: 32864997
Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B38-B41. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.184. PMID: 33168220
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
Baujat G, Le Merrer M
Orphanet J Rare Dis 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. PMID: 17547743Free PMC Article

Clinical prediction guides

Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibæk M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skålhegg BS, Otaify GA, Temtamy S, Aglan M, Jønch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL
Am J Hum Genet 2020 Nov 5;107(5):977-988. Epub 2020 Oct 14 doi: 10.1016/j.ajhg.2020.09.005. PMID: 33058759Free PMC Article
Laviv Y, Kasper BS, Kasper EM
Neurosurg Rev 2018 Oct;41(4):957-968. Epub 2017 Mar 7 doi: 10.1007/s10143-017-0839-7. PMID: 28265819
Rosa RR, Janeiro MM, Camargo SE, Porto Cde O, Kreich EM, Henriques JC
Indian J Dent Res 2012 Nov-Dec;23(6):801-5. doi: 10.4103/0970-9290.111264. PMID: 23649067
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
Baujat G, Le Merrer M
Orphanet J Rare Dis 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. PMID: 17547743Free PMC Article

Recent systematic reviews

Elagib MFA, Alqaysi MAH, Almushayt MOS, Nagate RR, Gokhale ST, Chaturvedi S
Technol Health Care 2023;31(3):1051-1064. doi: 10.3233/THC-220581. PMID: 36502352
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
Grossen A, Gavula T, Chrusciel D, Evans A, McNall-Knapp R, Taylor A, Fossey B, Brakefield M, Carter C, Schwartz N, Gross N, Jea A, Desai V
Neurosurg Focus 2022 May;52(5):E2. doi: 10.3171/2022.2.FOCUS21776. PMID: 35535824
Mylonas KS, Hayes M, Ko LN, Griggs CL, Kroshinsky D, Masiakos PT
J Pediatr Surg 2019 Jul;54(7):1351-1358. Epub 2018 May 29 doi: 10.1016/j.jpedsurg.2018.05.019. PMID: 29935895
Wang Y, He J, Decker AM, Hu JC, Zou D
Int J Oral Maxillofac Surg 2016 Aug;45(8):1035-43. Epub 2016 Apr 2 doi: 10.1016/j.ijom.2016.03.011. PMID: 27052318

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