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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pilomatrixoma


Other Names for this Disease

  • Calcifying epithelioma of Malherbe
  • Pilomatricoma
  • PTR
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Cause

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What causes pilomatrixomas?

The cause of all pilomatrixomas is not fully known, but investigators have shown that at least 75% of individuals with pilomatrixomas have mutations in the CTNNB1 gene.[1][2] This gene is responsible for a protein that is needed to regulate cell growth and attachment. When the gene is not working properly, it can result in abnormal cell growth.[2]  It is thought that the tumors typically arise from cells that interact with hair follicle cells.[1][2]
Last updated: 10/30/2014

References
  1. Jaggi Rao, Andrew Lin. Pilomatrixoma. Medscape Reference. March 3, 2014; http://emedicine.medscape.com/article/1058965-overview#a0104. Accessed 10/30/2014.
  2. Pilomatricoma. Genetics Home Reference. June 2012; http://ghr.nlm.nih.gov/condition/pilomatricoma. Accessed 10/30/2014.


Other Names for this Disease
  • Calcifying epithelioma of Malherbe
  • Pilomatricoma
  • PTR
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.