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Genetic and Rare Diseases Information Center (GARD)

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Cowden syndrome


Other Names for this Disease
  • CD
  • Cowden disease
  • Cowden's disease
  • CS
  • MHAM
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.

Overview

Cowden syndrome is an inherited condition that is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. It is considered part of the PTEN Hamartoma Tumor Syndrome spectrum which also includes Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome. People affected by Cowden syndrome are also at an increased risk of developing certain types of cancer, such as breast, thyroid and endometrial (lining of the uterus) cancer. Most cases are caused by changes (mutations) in the PTEN gene and are inherited in an autosomal dominant manner.[1][2] Management typically includes high-risk screening for associated tumors and/or prophylactic surgeries.[3]
Last updated: 3/15/2015

References

  1. Charis Eng, MD, PhD. PTEN Hamartoma Tumor Syndrome (PHTS). GeneReviews. January 2014; http://www.ncbi.nlm.nih.gov/books/NBK1488/#phts.Differential_Diagnosis.
  2. Katherine H Fiala, MD. Cowden Disease (Multiple Hamartoma Syndrome). Medscape Reference. February 2014; http://emedicine.medscape.com/article/1093383-overview.
  3. Mary B. Daly, MD, PhD; Robert Pilarski, MS, CGC. Genetic/Familial High-Risk Assessment: Breast and Ovarian. National Comprehensive Cancer Network. February 2014; Accessed 3/10/2015.
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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 Cowden syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. 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 Cowden syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CD
  • Cowden disease
  • Cowden's disease
  • CS
  • MHAM
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.