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Pure hair and nail ectodermal dysplasia(ECTD4)

MedGen UID:
400883
Concept ID:
C1865951
Disease or Syndrome
Synonym: Ectodermal dysplasia, 'pure' hair-nail type
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.
 
Monarch Initiative: MONDO:0019071
OMIM®: 602032; 602767
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]

Clinical features

From HPO
Palmoplantar keratosis
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Absent eyebrow
MedGen UID:
98133
Concept ID:
C0431448
Congenital Abnormality
Absence of the eyebrow.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Onycholysis
MedGen UID:
39324
Concept ID:
C0085661
Disease or Syndrome
Detachment of the nail from the nail bed.
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.
Abnormal sweat gland morphology
MedGen UID:
892310
Concept ID:
C0262643
Anatomical Abnormality
Any structural abnormality of the sweat gland.
Brittle hair
MedGen UID:
120480
Concept ID:
C0263490
Disease or Syndrome
Fragile, easily breakable hair, i.e., with reduced tensile strength.
Pili torti
MedGen UID:
82670
Concept ID:
C0263491
Finding
Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
Congenital onychodystrophy
MedGen UID:
853249
Concept ID:
C1393669
Congenital Abnormality
Absent eyelashes
MedGen UID:
334299
Concept ID:
C1843005
Congenital Abnormality
Lack of eyelashes.
Sparse body hair
MedGen UID:
350775
Concept ID:
C1862863
Finding
Sparseness of the body hair.
Hair-nail ectodermal dysplasia
MedGen UID:
870434
Concept ID:
C4024880
Anatomical Abnormality
Temporal hypotrichosis
MedGen UID:
870856
Concept ID:
C4025316
Congenital Abnormality
Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).

Term Hierarchy

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

Recent clinical studies

Etiology

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
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
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
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

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
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

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
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

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
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
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
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
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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