Wooly hair Q84.2

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 24.12.2021

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Synonym(s)

Congenital curly hair; curly hair; Curly hair Hypotrichosis; frizzy hair; Hypotrichosis with curly hair; Wool Hair; Woolly hair; Woolly hair Hypotrichosis

History
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Gossage, 1907

Definition
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Hair shaft anomaly with diffuse, permanent curling of the hair shaft. It occurs in Caucasians and resembles the hair of African Americans. The diagnosis is made clinically.

In the clinical picture of frizzy hair or "woolly hair", 2 forms are distinguished depending on the occurrence of systemic involvement:

  • syndromal frizzy hair (see below RASopathies)
  • non-syndromal frizzy hairs.

Non-syndromal "woolly-hair hypotrichosis" is divided into a:

  • autosomal recessive (OMIM: 278150/604379/611452)
  • and an
  • autosomal dominant genotype (OMIM: 194300)

Etiopathogenesis
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In autosomal recessive curly hair (ARWH/H - OMIM 278150), mutations have been detected in the LIPH- /LPAR6 and KRT25- genes (Mizukami Y et al. 2018). LIPH encodes PA-PLA1alpha - lipase H- an enzyme of the phospholipase family. PA-PLA1alpha is expressed along with its ligand in the inner layer of the hair root sheath. Lipase H produces lysophatidic acid (LPA) an extrezallular mediator of many biological functions that appears to exert growth stimuli on the hair root cells.

The autosomal dominant inherited form (OMIM 194300) occurs at birth or within the first 3 years of life. Associations with trichorrhexis nodosa, pili torti, pili anulati , and trichonodosis have been described. The hair cannot be coiffed. Mutations in KRT71 but also in KRT74, genes coding for keratin 71 and 74, respectively, have been detected in association with woolly hair. Apparently, different genotypes cause a comparable or identical phenotype (Shimomura Y et al. 2010).

Acquired frizzy hair can occur in connection with the use of various medications. Medications. These include: alitretinoin, etretinate, isotretinoin, valproic acid, indinavir, EGFR tyrosinase inhibitors (gefitinib, erlotinib).

Idiopathic hair frizz in healthy adolescents has also been described. Hair frizz is furthermore a phenomenon observed in regrowing hair after cytostatic therapy.

Manifestation
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In syndromal frizzy hair a first manifestation is observed in the 1st year of life. With the acquired forms in all stages of life.

Clinical features
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Thin, light-colored, finely crimped, not combable hair. The hairs have axial twists of 180 degrees and structurally resemble sheep's wool. The hairs are elliptical or oval with reduced diameter.

An association is found with pili torti, pili anulati and trichonodosis.

Circumscribed crimping hairs are referred to as crimping hair nevus.

Progression/forecast
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Improvement of the hair structure in the course of life is possible.

Note(s)
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CHANDS is the acronym for "Curly Hair Ankyloblepharon Nail Dystrophia". The syndrome is associated with an autosomal recessive homozygous mutation in the RIPK4 gene (605706). RIPK4 is located on chromosome 21q22 (Busa T et al. 2017).

Literature
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  1. Baykan A et al. (2015) Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature. Anatol J Cardiol 15: 404-408
  2. Bukhari I et al (2004) Naxos disease in Saudi Arabia. J Eur Acad Dermatol Venereol 18: 614-616.
  3. Busa T et al (2017) Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. Am J Med Genet A 173:3114-3117.
  4. Camacho-Bragado GA et al (2015) Understanding breakage in curly hair. Br J Dermatol 173 Suppl 2:10-16.
  5. Fujimoto A et al (2012) A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. J Invest Dermatol 132:2342-2349
  6. Gossage AM (1907) The inheritance of certain human abnormalities. Quart J Med 1: 331-347
  7. Harada T et al (2013) Two cases of autosomal recessive woolly hair with LIPH gene mutations. Int J Dermatol 52:572-574
  8. Hayashi R (2014) Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair. J Dermatol 41: 890-894
  9. Herink C et al (2015) Development of curly hair under systemic therapy with alitretinoin. Dermatol 66: 617-619
  10. Kaplan SR et al (2004) Structural and molecular pathology of the heart in Carvajal syndrome. Cardiovasc Pathol 13: 26-32
  11. Lee KE et al (2014) Oligodontia and curly hair occur with ectodysplasin-a mutations. J Dent Res 93: 371-375
  12. Mehmood S et al (2014) Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair. Australas J Dermatol doi: 10.1111/ajd.12157.
  13. Mizukami Y et al. (2018) Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review. J Dermatol 45: 613-617.
  14. Shimomura Y et al (2010) Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Am J Hum Genet 86:632-638.
  15. van Steensel MA et al. (2001) Woolly hair, premature loss of teeth, nail dystrophy, acral hyperkeratosis and facial abnormalities: possible new syndrome in a Dutch kindred. Br J Dermatol 145: 157-161
  16. Whittock NV et al (2002) Compound heterozygosity for non-sense and missense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 118: 232-238
  17. Zernov NV et al (2016) Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. J Invest Dermatol 136:1097-1105 .

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 24.12.2021