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Diseases

Genetic and Rare Diseases Information Center (GARD)

Monilethrix


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.[1][2][3]

Last updated: 10/5/2015

References
  1. Schwartz RA, Alexiewicx-Slowinska M. Monilethrix. Medscape Reference. September 8, 2015; http://emedicine.medscape.com/article/1118500-overview#. Accessed 10/5/2015.
  2. Monilethrix. Online Mendelian Inheritance in Man (OMIM). July 2, 2014; http://omim.org/entry/158000. Accessed 10/5/2015.
  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 Aug; 165(2):425-31. http://www.ncbi.nlm.nih.gov/pubmed/21495994. Accessed 10/5/2015.


Other Names for this Disease
  • Nodose hair
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.