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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
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Overview

A pilomatrixoma is a benign (non-cancerous) skin tumor that typically occurs in the head and neck area.[1] The tumor usually does not cause any symptoms, but it can be associated with pain. A pilomatrixoma often occurs during childhood but has been reported in individuals of all ages. It may be caused by a change (mutation) in the CTNNB1 gene. Pilomatrixomas have been reported to occur in multiple members of a family, although the pattern of inheritance has not been confirmed. Familial cases have been observed but the mode of inheritance has not been confirmed. Treatment focuses on surgical removal of the tumor. Pilomatrixomas usually occur in the absence of another condition but have been associated with some conditions including Gardner syndromemyotonic dystrophy (especially when multiple pilomatrixomas are present), and sarcoidosis.  A few cases of malignant (cancerous) pilomatrixoma have been reported.[2]
Last updated: 12/1/2010

References

  1. Victor A. McKusick. Pilomatrixoma. OMIM. April 14, 2005; http://www.ncbi.nlm.nih.gov/omim/132600. Accessed 11/29/2010.
  2. Suzy Duflo, Richard Nicollas, Stéphane Roman, Guy Magalon, Jean Michel Triglia. Pilomatrixoma of the Head and Neck in Children: A Study of 38 Cases and a Review of the Literature. Archives of Otolaryngology- Head and Neck Surgery. November 1998; 124(11):1239-1242. http://archotol.ama-assn.org/cgi/content/full/124/11/1239. Accessed 11/29/2010.
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Basic Information

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  • The 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. 
  • 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.