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Genetics Home Reference: your guide to understanding genetic conditions
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Autosomal recessive hypotrichosis

Reviewed April 2013

What is 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.

Rarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs.

How common is autosomal recessive hypotrichosis?

The worldwide prevalence of autosomal recessive hypotrichosis is unknown. In Japan, the condition is estimated to affect 1 in 10,000 individuals.

What genes are related to autosomal recessive hypotrichosis?

Autosomal recessive hypotrichosis can be caused by mutations in the LIPH, LPAR6, or DSG4 gene. These genes provide instructions for making proteins that are involved in the growth and division (proliferation) and maturation (differentiation) of cells within hair follicles. These cell processes are important for the normal development of hair follicles and for hair growth; as the cells in the hair follicle divide, the hair strand (shaft) is pushed upward and extends beyond the skin, causing the hair to grow. The proteins produced from the LIPH, LPAR6, and DSG4 genes are also found in the outermost layer of skin (the epidermis) and glands in the skin that produce a substance that protects the skin and hair (sebaceous glands).

Mutations in the LIPH, LPAR6, or DSG4 gene result in the production of abnormal proteins that cannot aid in the development of hair follicles. As a result, hair follicles are structurally abnormal and often underdeveloped. Irregular hair follicles alter the structure and growth of hair shafts, leading to woolly, fragile hair that is easily broken. A lack of these proteins in the epidermis likely contributes to the skin problems sometimes seen in affected individuals.

In some areas of the body, other proteins can compensate for the function of the missing protein, so not all areas with hair are affected and not all individuals have skin problems.

Related Gene(s)

Changes in these genes are associated with autosomal recessive hypotrichosis.

  • DSG4
  • LIPH
  • LPAR6

How do people inherit autosomal recessive hypotrichosis?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of autosomal recessive hypotrichosis?

These resources address the diagnosis or management of autosomal recessive hypotrichosis and may include treatment providers.

  • American Academy of Dermatology: Hair Loss: Tips for Managing (http://www.aad.org/dermatology-a-to-z/diseases-and-treatments/e---h/hair-loss/tips)
  • Genetic Testing Registry: Woolly hair, autosomal recessive 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1848435)

You might also find information on the diagnosis or management of autosomal recessive hypotrichosis in Educational resources (http://www.ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about autosomal recessive hypotrichosis?

You may find the following resources about autosomal recessive hypotrichosis helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for autosomal recessive hypotrichosis?

  • AH
  • autosomal recessive localized hypotrichosis
  • autosomal recessive woolly hair with or without hypotrichosis
  • HTL
  • hypotrichoses
  • hypotrichosis
  • LAH
  • total hypotrichosis, Mari type

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about autosomal recessive hypotrichosis?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding autosomal recessive hypotrichosis?

alopecia ; autosomal ; autosomal recessive ; cell ; differentiation ; epidermis ; erythema ; gene ; hair follicle ; hypotrichosis ; inherited ; prevalence ; proliferation ; protein ; recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • 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 in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). Hum Genet. 2008 Jun;123(5):515-9. doi: 10.1007/s00439-008-0507-7. Epub 2008 May 7. (http://www.ncbi.nlm.nih.gov/pubmed/18461368?dopt=Abstract)
  • 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 hypotrichosis simplex with woolly hair. J Am Acad Dermatol. 2009 Nov;61(5):813-8. doi: 10.1016/j.jaad.2009.04.020. Epub 2009 Sep 18. (http://www.ncbi.nlm.nih.gov/pubmed/19766349?dopt=Abstract)
  • Khan S, Habib R, Mir H, Umm-e-Kalsoom, Naz G, Ayub M, Shafique S, Yamin T, Ali N, 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 recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. Clin Exp Dermatol. 2011 Aug;36(6):652-4. doi: 10.1111/j.1365-2230.2011.04014.x. Epub 2011 Mar 21. (http://www.ncbi.nlm.nih.gov/pubmed/21426374?dopt=Abstract)
  • Kurban M, Wajid M, Shimomura Y, Christiano AM. Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. J Eur Acad Dermatol Venereol. 2013 May;27(5):545-9. doi: 10.1111/j.1468-3083.2012.04472.x. Epub 2012 Mar 5. (http://www.ncbi.nlm.nih.gov/pubmed/22385360?dopt=Abstract)
  • Schaffer JV, Bazzi H, Vitebsky A, Witkiewicz A, Kovich OI, Kamino H, Shapiro LS, Amin SP, Orlow SJ, Christiano AM. Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. J Invest Dermatol. 2006 Jun;126(6):1286-91. (http://www.ncbi.nlm.nih.gov/pubmed/16543896?dopt=Abstract)
  • Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM. Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol. 2009 Mar;129(3):622-8. doi: 10.1038/jid.2008.290. Epub 2008 Oct 2. (http://www.ncbi.nlm.nih.gov/pubmed/18830268?dopt=Abstract)
  • Shimomura Y. Congenital hair loss disorders: rare, but not too rare. J Dermatol. 2012 Jan;39(1):3-10. doi: 10.1111/j.1346-8138.2011.01395.x. Epub 2011 Nov 2. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22044263?dopt=Abstract)
  • 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 of PA-PLA1alpha in autosomal recessive hypotrichosis. Hum Mutat. 2010 May;31(5):602-10. doi: 10.1002/humu.21235. (http://www.ncbi.nlm.nih.gov/pubmed/20213768?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2013
Published: September 22, 2014