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Pure hair and nail ectodermal dysplasia

MedGen UID:
978375
•Concept ID:
CN294191
•
Disease or Syndrome
Synonyms: Hair-nail ectodermal dysplasia; hair-nail ectodermal dysplasia; HNED; PHNED; pure hair and nail ectodermal dysplasia
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.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019071
Orphanet: ORPHA69084

Definition

Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPure hair and nail ectodermal dysplasia

Recent clinical studies

Etiology

An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases.
Doğan MS, Callea M, Yavuz Ì, Aksoy O, Clarich G, Günay A, Günay A, Güven S, Maglione M, Akkuş Z
Med Oral Patol Oral Cir Bucal 2015 May 1;20(3):e340-6. doi: 10.4317/medoral.20303. PMID: 25662550Free PMC Article
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N
PLoS One 2014;9(4):e93607. Epub 2014 Apr 8 doi: 10.1371/journal.pone.0093607. PMID: 24714551Free PMC Article
Ectodermal dysplasias.
Itin PH, Fistarol SK
Am J Med Genet C Semin Med Genet 2004 Nov 15;131C(1):45-51. doi: 10.1002/ajmg.c.30033. PMID: 15468153
Pure ectodermal dysplasia: retrospective study of 16 cases and literature review.
Ruhin B, Martinot V, Lafforgue P, Catteau B, Manouvrier-Hanu S, Ferri J
Cleft Palate Craniofac J 2001 Sep;38(5):504-18. doi: 10.1597/1545-1569_2001_038_0504_pedrso_2.0.co_2. PMID: 11522173

Diagnosis

A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family.
Farooq M, Kurban M, Fujimoto A, Fujikawa H, Abbas O, Nemer G, Saliba J, Sleiman R, Tofaili M, Kibbi AG, Ito M, Shimomura Y
Hum Mutat 2013 Apr;34(4):578-81. Epub 2013 Mar 5 doi: 10.1002/humu.22271. PMID: 23315978
Hair-nail dysplasia--a new pure autosomal dominant ectodermal dysplasia.
Pinheiro M, Freire-Maia N
Clin Genet 1992 Jun;41(6):296-8. doi: 10.1111/j.1399-0004.1992.tb03401.x. PMID: 1623625

Prognosis

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.
Khan AK, Muhammad N, Aziz A, Khan SA, Shah K, Nasir A, Khan MA, Khan S
BMC Med Genet 2017 Apr 12;18(1):42. doi: 10.1186/s12881-017-0402-y. PMID: 28403827Free PMC Article
A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia.
Li X, Orseth ML, Smith JM, Brehm MA, Agim NG, Glass DA 2nd
Pediatr Dermatol 2017 Mar;34(2):172-175. doi: 10.1111/pde.13074. PMID: 28297138

Clinical prediction guides

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.
Khan AK, Muhammad N, Aziz A, Khan SA, Shah K, Nasir A, Khan MA, Khan S
BMC Med Genet 2017 Apr 12;18(1):42. doi: 10.1186/s12881-017-0402-y. PMID: 28403827Free PMC Article
A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia.
Li X, Orseth ML, Smith JM, Brehm MA, Agim NG, Glass DA 2nd
Pediatr Dermatol 2017 Mar;34(2):172-175. doi: 10.1111/pde.13074. PMID: 28297138
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N
PLoS One 2014;9(4):e93607. Epub 2014 Apr 8 doi: 10.1371/journal.pone.0093607. PMID: 24714551Free PMC Article
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.
Lin Z, Chen Q, Shi L, Lee M, Giehl KA, Tang Z, Wang H, Zhang J, Yin J, Wu L, Xiao R, Liu X, Dai L, Zhu X, Li R, Betz RC, Zhang X, Yang Y
Am J Hum Genet 2012 Nov 2;91(5):906-11. Epub 2012 Oct 11 doi: 10.1016/j.ajhg.2012.08.029. PMID: 23063621Free PMC Article
Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.
Rasool M, Nawaz S, Azhar A, Wajid M, Westermark P, Baig SM, Klar J, Dahl N
Eur J Dermatol 2010 Jul-Aug;20(4):443-6. Epub 2010 Apr 21 doi: 10.1684/ejd.2010.0962. PMID: 20409997

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