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Yang, C. Autosomal Recessive Hypotrichosis. Encyclopedia. Available online: https://encyclopedia.pub/entry/4901 (accessed on 28 September 2026).
Yang C. Autosomal Recessive Hypotrichosis. Encyclopedia. Available at: https://encyclopedia.pub/entry/4901. Accessed September 28, 2026.
Yang, Catherine. "Autosomal Recessive Hypotrichosis" Encyclopedia, https://encyclopedia.pub/entry/4901 (accessed September 28, 2026).
Yang, C. (2020, December 24). Autosomal Recessive Hypotrichosis. In Encyclopedia. https://encyclopedia.pub/entry/4901
Yang, Catherine. "Autosomal Recessive Hypotrichosis." Encyclopedia. Web. 24 December, 2020.
Autosomal Recessive Hypotrichosis
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/autosomal-recessive-hypotrichosis

Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.

genetic conditions

References

  1. Azeem Z, Jelani M, Naz G, Tariq M, Wasif N, Kamran-Ul-Hassan Naqvi S, Ayub M, Yasinzai M, Amin-Ud-Din M, Wali A, Ali G, Chishti MS, Ahmad W. Novel mutations inG protein-coupled receptor gene (P2RY5) in families with autosomal recessivehypotrichosis (LAH3). Hum Genet. 2008 Jun;123(5):515-9. doi:10.1007/s00439-008-0507-7.
  2. Horev L, Tosti A, Rosen I, Hershko K, Vincenzi C, Nanova K, Mali A, Potikha T,Zlotogorski A. Mutations in lipase H cause autosomal recessive hypotrichosissimplex with woolly hair. J Am Acad Dermatol. 2009 Nov;61(5):813-8. doi:10.1016/j.jaad.2009.04.020.
  3. Khan S, Habib R, Mir H, Umm-e-Kalsoom, Naz G, Ayub M, Shafique S, Yamin T, AliN, Basit S, Wasif N, Kamran-Ul-Hassan Naqvi S, Ali G, Wali A, Ansar M, Ahmad W.Mutations in the LPAR6 and LIPH genes underlie autosomal recessivehypotrichosis/woolly hair in 17 consanguineous families from Pakistan. Clin ExpDermatol. 2011 Aug;36(6):652-4. doi: 10.1111/j.1365-2230.2011.04014.x.
  4. Kurban M, Wajid M, Shimomura Y, Christiano AM. Mutations in LPAR6/P2RY5 andLIPH are associated with woolly hair and/or hypotrichosis. J Eur Acad DermatolVenereol. 2013 May;27(5):545-9. doi: 10.1111/j.1468-3083.2012.04472.x.
  5. Schaffer JV, Bazzi H, Vitebsky A, Witkiewicz A, Kovich OI, Kamino H, ShapiroLS, Amin SP, Orlow SJ, Christiano AM. Mutations in the desmoglein 4 gene underlielocalized autosomal recessive hypotrichosis with monilethrix hairs and congenitalscalp erosions. J Invest Dermatol. 2006 Jun;126(6):1286-91.
  6. Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM. Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. J InvestDermatol. 2009 Mar;129(3):622-8. doi: 10.1038/jid.2008.290.
  7. Shimomura Y. Congenital hair loss disorders: rare, but not too rare. JDermatol. 2012 Jan;39(1):3-10. doi: 10.1111/j.1346-8138.2011.01395.x.
  8. Shinkuma S, Akiyama M, Inoue A, Aoki J, Natsuga K, Nomura T, Arita K, Abe R,Ito K, Nakamura H, Ujiie H, Shibaki A, Suga H, Tsunemi Y, Nishie W, Shimizu H.Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability ofPA-PLA1alpha in autosomal recessive hypotrichosis. Hum Mutat. 2010May;31(5):602-10. doi: 10.1002/humu.21235.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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