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Genetic and Rare Diseases Information Center (GARD)

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Other Names for this Disease
  • Calcifying epithelioma of Malherbe
  • Pilomatricoma
  • PTR
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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] 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.[3]
Last updated: 12/1/2010

  1. Jaggi Rao, Andrew Lin. Pilomatrixoma. Emedicine. May 21, 2010; Accessed 12/1/2010.
  2. CTNNB1. Genetics Home Reference. November 28, 2010; Accessed 12/1/2010.
  3. Pirouzmanesh A, Reinisch JF, Gonzalez-Gomez I, Smith EM, Meara JG. Pilomatrixoma: a review of 346 cases. Plastic and Reconstructive Surgery. December 2003; 112(7):1784-1789. Accessed 12/1/2010.