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Autosomal dominant wooly hair(ADWH)

MedGen UID:: 348571
•Concept ID:: C1860238
•: Finding

Synonym:	Autosomal dominant woolly hair

Gene (location): Gene(s) directly associated with this condition or phenotype.	KRT74 (12q13.13)

Monarch Initiative:	MONDO:0020717
OMIM®:	194300

Definition

Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends. WH can appear as part of several syndromes, such as Naxos disease (601214) and cardiofaciocutaneous syndrome (115150) (summary by Petukhova et al., 2009). See 278150 for a discussion of genetic heterogeneity of autosomal recessive woolly hair. [from OMIM]

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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Abnormal eyebrow morphology

MedGen UID:: 859993
•Concept ID:: C4011556
•: Anatomical Abnormality

An abnormality of the eyebrow.

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Keratosis pilaris

MedGen UID:: 82664
•Concept ID:: C0263383
•: Disease or Syndrome

An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.

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Coarse hair

MedGen UID:: 124454
•Concept ID:: C0277959
•: Finding

Hair shafts are rough in texture.

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Dry hair

MedGen UID:: 75809
•Concept ID:: C0277960
•: Finding

Hair that lacks the luster (shine or gleam) of normal hair.

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Wooly hair

MedGen UID:: 87469
•Concept ID:: C0343073
•: Finding

The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.

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Slow-growing hair

MedGen UID:: 371309
•Concept ID:: C1832348
•: Finding

Hair whose growth is slower than normal.

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Abnormal eyelash morphology

MedGen UID:: 382526
•Concept ID:: C2675111
•: Finding

An abnormality of the eyelashes.

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Abnormality of head or neck
- Abnormal eyebrow morphology
Abnormality of limbs
- Palmoplantar keratosis
Abnormality of the integument

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVWooly hair
- CROGVAutosomal dominant wooly hair
- CROGVHypotrichosis 8

Phenotypic abnormality
- Abnormality of the integument
  - Abnormal skin adnexa morphology
    - Abnormal hair morphology
      - Abnormality of hair texture
        Wooly hair
        Autosomal dominant wooly hair

Recent clinical studies

Etiology

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.

Schlaweck AE, Tazi-Ahnini R, Ü Basmanav FB, Mohungoo J, Pasternack-Ziach SM, Mattheisen M, Oprisoreanu AM, Humbatova A, Wolf S, Messenger A, Betz RC
PLoS One 2019;14(12):e0225943. Epub 2019 Dec 2 doi: 10.1371/journal.pone.0225943. PMID: 31790498 Free PMC Article

Clinical spectrum of woolly hair: indications for cerebral involvement.

Pavone P, Falsaperla R, Barbagallo M, Polizzi A, Praticò AD, Ruggieri M
Ital J Pediatr 2017 Nov 2;43(1):99. doi: 10.1186/s13052-017-0417-1. PMID: 29096685 Free PMC Article

Arrhythmogenic cardiomyopathy.

Pilichou K, Thiene G, Bauce B, Rigato I, Lazzarini E, Migliore F, Perazzolo Marra M, Rizzo S, Zorzi A, Daliento L, Corrado D, Basso C
Orphanet J Rare Dis 2016 Apr 2;11:33. doi: 10.1186/s13023-016-0407-1. PMID: 27038780 Free PMC Article

Genetics of human isolated hereditary hair loss disorders.

Basit S, Khan S, Ahmad W
Clin Genet 2015 Sep;88(3):203-12. Epub 2014 Nov 22 doi: 10.1111/cge.12531. PMID: 25350920

Arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Thiene G, Corrado D, Basso C
Orphanet J Rare Dis 2007 Nov 14;2:45. doi: 10.1186/1750-1172-2-45. PMID: 18001465 Free PMC Article

See all (7)

Diagnosis

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.

Clinical spectrum of woolly hair: indications for cerebral involvement.

Pavone P, Falsaperla R, Barbagallo M, Polizzi A, Praticò AD, Ruggieri M
Ital J Pediatr 2017 Nov 2;43(1):99. doi: 10.1186/s13052-017-0417-1. PMID: 29096685 Free PMC Article

Arrhythmogenic cardiomyopathy.

Genetics of human isolated hereditary hair loss disorders.

Basit S, Khan S, Ahmad W
Clin Genet 2015 Sep;88(3):203-12. Epub 2014 Nov 22 doi: 10.1111/cge.12531. PMID: 25350920

Arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Thiene G, Corrado D, Basso C
Orphanet J Rare Dis 2007 Nov 14;2:45. doi: 10.1186/1750-1172-2-45. PMID: 18001465 Free PMC Article

See all (9)

Prognosis

A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review.

Santos-Ferreira C, Baptista R, Teixeira T, Gonçalves L
BMC Cardiovasc Disord 2022 Feb 12;22(1):41. doi: 10.1186/s12872-022-02472-5. PMID: 35151254 Free PMC Article

Clinical spectrum of woolly hair: indications for cerebral involvement.

Pavone P, Falsaperla R, Barbagallo M, Polizzi A, Praticò AD, Ruggieri M
Ital J Pediatr 2017 Nov 2;43(1):99. doi: 10.1186/s13052-017-0417-1. PMID: 29096685 Free PMC Article

A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations.

Chalabreysse L, Senni F, Bruyère P, Aime B, Ollagnier C, Bozio A, Bouvagnet P
J Dent Res 2011 Jan;90(1):58-64. Epub 2010 Oct 12 doi: 10.1177/0022034510383984. PMID: 20940358

Arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Thiene G, Corrado D, Basso C
Orphanet J Rare Dis 2007 Nov 14;2:45. doi: 10.1186/1750-1172-2-45. PMID: 18001465 Free PMC Article

See all (4)

Clinical prediction guides

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.

Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.

Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM, Lambiase PD, Tinker A, McKenna WJ, Kelsell DP
Br J Dermatol 2019 May;180(5):1114-1122. Epub 2019 Jan 2 doi: 10.1111/bjd.17388. PMID: 30382575 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

See all (3)

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Autosomal dominant wooly hair(ADWH)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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