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Diseases

Genetic and Rare Diseases Information Center (GARD)

Multiple familial trichoepithelioma


Other Names for this Disease
  • Epithelioma adenoides cysticum
  • Hereditary multiple benign cystic epithelioma
  • Brooke-Fordyce trichoepitheliomas
  • Trichoepithelioma multiple familial
  • Familial multiple trichoepithelioma
Related Diseases
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Overview

Multiple familial trichoepithelioma is a rare condition characterized by multiple smooth, round, firm, skin-colored tumors (trichoepitheliomas) that usually occur on the face, but may also occur on the scalp, neck, and trunk.[1][2][3] The tumors are derived from immature hair follicles.[2][3] They usually first develop during childhood or adolescence and may grow larger and increase in number over time.[1][3] The condition can be caused by alterations (mutations) in the CYLD gene or by mutations in other genes which are still unknown. The condition may be divided in two subtypes, multiple familial trichoepithelioma type 1 and multiple familial trichoepithelioma type 2.  Susceptibility to multiple familial trichoepithelioma is inherited in an autosomal dominant fashion, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.Treatment often involves surgery to remove a single lesion and cryosurgery or laser surgery for multiple ones.[3][4]
Last updated: 8/15/2015

References

  1. Neff AG, Carter KD. Benign Eyelid Lesions. In: Yanoff & Duker. Ophthalmology, 3rd ed. Philadelphia, PA: Mosby; 2008;
  2. Morelli JG. Tumors of the Skin. In: Kliegman eds. Nelson Textbook of Pediatrics, 18th ed. Philadelphia, PA: Saunders; 2007;
  3. Multiple familial trichoepithelioma. Genetics Home Reference. June 2012; http://ghr.nlm.nih.gov/condition/multiple-familial-trichoepithelioma. Accessed 8/15/2015.
  4. Nagy N, Farkas K, Kemény L & Széll M. Phenotype-genotype correlations for clinical variants caused by CYLD mutations. Eur J Med Genet. 2015 May;. May, 2015; 58(5):271-8. http://www-ncbi-nlm-nih-gov.ezproxy.nihlibrary.nih.gov/pubmed/25782638. Accessed 8/14/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Multiple familial trichoepithelioma. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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. 
    Online Mendelian Inheritance in Man (OMIM)
    Online Mendelian Inheritance in Man (OMIM)
  • 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 Multiple familial trichoepithelioma. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Epithelioma adenoides cysticum
  • Hereditary multiple benign cystic epithelioma
  • Brooke-Fordyce trichoepitheliomas
  • Trichoepithelioma multiple familial
  • Familial multiple trichoepithelioma
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.