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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. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

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.

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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.

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Abnormality of the dentition

MedGen UID:: 78084
•Concept ID:: C0262444
•: Finding

Any abnormality of the teeth.

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Absent eyebrow

MedGen UID:: 98133
•Concept ID:: C0431448
•: Congenital Abnormality

Absence of the eyebrow.

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Alopecia

MedGen UID:: 7982
•Concept ID:: C0002170
•: Finding

A noncongenital process of hair loss, which may progress to partial or complete baldness.

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Onycholysis

MedGen UID:: 39324
•Concept ID:: C0085661
•: Disease or Syndrome

Detachment of the nail from the nail bed.

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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.

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Abnormal sweat gland morphology

MedGen UID:: 892310
•Concept ID:: C0262643
•: Anatomical Abnormality

Any structural abnormality of the sweat gland.

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Brittle hair

MedGen UID:: 120480
•Concept ID:: C0263490
•: Disease or Syndrome

Fragile, easily breakable hair, i.e., with reduced tensile strength.

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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.

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Congenital onychodystrophy

MedGen UID:: 853249
•Concept ID:: C1393669
•: Congenital Abnormality

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Absent eyelashes

MedGen UID:: 334299
•Concept ID:: C1843005
•: Congenital Abnormality

Lack of eyelashes.

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Sparse body hair

MedGen UID:: 350775
•Concept ID:: C1862863
•: Finding

Sparseness of the body hair.

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Hair-nail ectodermal dysplasia

MedGen UID:: 870434
•Concept ID:: C4024880
•: Anatomical Abnormality

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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).

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Show all Hide all

Abnormality of head or neck
- Abnormality of the dentition
- Absent eyebrow
Abnormality of limbs
- Palmoplantar keratosis
Abnormality of the integument
Abnormality of the nervous system
- Intellectual disability

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPure hair and nail ectodermal dysplasia

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Ectodermal dysplasia
      - Pure 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: 25662550 Free 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: 24714551 Free 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

See all (4)

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

See all (2)

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: 28403827 Free 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

See all (2)

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: 28403827 Free 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: 24714551 Free 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: 23063621 Free 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

See all (5)

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Pure hair and nail ectodermal dysplasia(ECTD4)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Related information

Recent activity