Print friendly version
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.
On this page
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). 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.
Last updated: 1/30/2012
- Schwartz RA, Alexiewicx-Slowinska M. Monilethrix. Medscape Reference. May 13, 2011; http://emedicine.medscape.com/article/1118500-overview#. Accessed 1/30/2012.
- Monilethrix. Online Mendelian Inheritance in Man (OMIM). May 6, 2010; http://omim.org/entry/158000. Accessed 1/30/2012.
- 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.