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Genetic and Rare Diseases Information Center (GARD)

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Pilomatrixoma


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.

Overview

Pilomatrixoma is a benign (non-cancerous) skin tumor of the hair follicle (structure in the skin that makes hair). They tend to develop in the head and neck area and are usually not associated with any other signs and symptoms (isolated). Rarely, pilomatrixomas can become cancerous (known as a pilomatrix carcinoma). Although they can occur in people of all ages, pilomatrixomas are most commonly diagnosed in people under age 20. The exact underlying cause is not well understood; however, somatic changes (mutations) in the CTNNB1 gene are found in most isolated pilomatrixomas. 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 signs and symptoms of the associated condition. They are usually treated with surgical excision.[1][2][3]
Last updated: 1/23/2015

References

  1. Pilomatricoma. DermNet NZ. December 2014; http://www.dermnetnz.org/lesions/pilomatricoma.html.
  2. Jaggi Rao, Andrew Lin. Pilomatrixoma. Medscape Reference. March 3, 2014; http://emedicine.medscape.com/article/1058965-overview#a0104.
  3. Pilomatricoma. Genetics Home Reference. June 2012; http://ghr.nlm.nih.gov/condition/pilomatricoma.
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Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Pilomatrixoma. This website is maintained by the National Library of Medicine.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pilomatrixoma. Click on the link to view a sample search on this topic.
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.