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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Nodose hair
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Cause


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What causes monilethrix?

The cause of monilethrix remains unclear. To date, whether monilethrix is a disorder of the function or structure of the hair has not been determined. Some genetic studies suggest that monilethrix is likely caused by a mutation (change in a gene) in keratin (a type of protein found in the hair).[1] At least four genes have been found to cause this condition. Autosomal dominant monilethrix is caused by mutations in the hair cortex keratin genes KRT81, KRT83, or KRT86. The autosomal recessive form of monilethrix results from mutations in the desmoglein 4 (DSG4) gene.[2][3]

Last updated: 1/30/2012

References
  1. Schwartz RA, Alexiewicx-Slowinska M. Monilethrix. Medscape Reference. September 12, 2013; http://emedicine.medscape.com/article/1118500-overview#. Accessed 3/12/2014.
  2. Monilethrix. Online Mendelian Inheritance in Man (OMIM). May 6, 2010; http://omim.org/entry/158000. Accessed 1/30/2012.
  3. Farooq M, Ito M, Naito M, Shimomura Y. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. Br J Dermatol. 2011; http://www.ncbi.nlm.nih.gov/pubmed/21495994. Accessed 1/30/2012.