Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Pilomatrixoma


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

Cause

Newline Maker

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. Rao J. Pilomatrixoma. Medscape Reference. March 3, 2014; http://emedicine.medscape.com/article/1058965-overview#a0104. Accessed 3/9/2015.
  2. Pilomatricoma. Genetics Home Reference. June 2012; http://ghr.nlm.nih.gov/condition/pilomatricoma.


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