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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
  • Epithelioma calcificans of Malherbe
  • Pilomatricoma
  • PTR
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Cause

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What causes a pilomatrixoma?

The exact underlying cause of pilomatrixoma is not well understood. Changes (mutations) in the CTNNB1 gene are found in at least 75% of isolated (without other signs and symptoms) pilomatrixomas. These mutations are somatic, which means they are not inherited and are only present in the tumor cells. The CTNNB1 gene encodes 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.[1][2]

Rarely, pilomatrixomas occur in people with certain genetic syndromes such as Gardner syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome. In these cases, affected people usually have other characteristic features of the associated condition.[1][2]
Last updated: 1/22/2015

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


Other Names for this Disease
  • Calcifying epithelioma of Malherbe
  • Epithelioma calcificans 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.