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Cowden syndrome

Reviewed March 2006

What is Cowden syndrome?

Cowden syndrome is a rare disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but can also occur in the intestinal tract and other parts of the body. Abnormal growths on the skin and mucous membranes typically appear by a person's late twenties.

People with Cowden syndrome have an increased risk of developing several types of cancer, including cancers of the breast, thyroid, and the lining of the uterus (the endometrium). Noncancerous breast and thyroid diseases are also common. Other signs and symptoms of Cowden syndrome can include an enlarged head (macrocephaly); a rare, noncancerous brain tumor called Lhermitte-Duclos disease; and intellectual disability.

How common is Cowden syndrome?

Researchers estimate that Cowden syndrome affects about 1 in 200,000 people; however, the exact prevalence of this condition is unknown because it can be difficult to diagnose.

What genes are related to Cowden syndrome?

Mutations in the PTEN gene cause Cowden syndrome.

PTEN is a tumor suppressor gene, which means that it normally prevents cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the PTEN gene have been identified in about 85 percent of people with Cowden syndrome. These mutations, which affect all of the body's cells, prevent the PTEN protein from effectively regulating cell survival and division. Uncontrolled cell division can lead to the formation of hamartomas and cancerous tumors.

The cause of the remaining Cowden syndrome cases is unknown. Mutations in a region of DNA that regulates the activity of the PTEN gene may be responsible for some cases of this condition.

How do people inherit Cowden syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing noncancerous and cancerous tumors.

In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.

Where can I find information about treatment for Cowden syndrome?

You may find information on treatment or management of Cowden syndrome or some of its symptoms in the links below, particularly the links for Gene Reviews, Educational resources, and Patient support.

Where can I find additional information about Cowden syndrome?

You may find the following resources about Cowden syndrome helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    Health Topic: Cancer (http://www.nlm.nih.gov/medlineplus/cancer.html)
  • Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&DiseaseID=6202)
  • Educational resources - Information pages
    • Madisons Foundation (http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,537/)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=201)
    • University of Virginia Health System (http://www.healthsystem.virginia.edu/uvahealth/adult_breast/cowden.cfm)
  • Patient support - For patients and families
    • American Cancer Society (http://www.cancer.org)
    • National Coalition for Cancer Survivorship (http://www.canceradvocacy.org)
    • Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/cancer.html)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phts)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=53766)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22cowden+syndrome%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(Hamartoma+Syndrome,+Multiple[MAJR])+AND+(Cowden+syndrome[TIAB])+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=1800+Days)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158350)

What other names do people use for Cowden syndrome?

  • Cowden's disease
  • Cowden's syndrome
  • CS
  • MHAM
  • Multiple hamartoma syndrome

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Cowden syndrome?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding Cowden syndrome?

autosomal ; autosomal dominant ; cancer ; cell ; cell division ; DNA ; endometrium ; gene ; hamartoma ; macrocephaly ; mucous ; mucous membrane ; mutation ; new mutation ; prevalence ; protein ; sign ; symptom ; syndrome ; thyroid ; tumor ; tumor suppressor gene

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • de Jong MM, Nolte IM, te Meerman GJ, van der Graaf WT, Oosterwijk JC, Kleibeuker JH, Schaapveld M, de Vries EG. Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility. J Med Genet. 2002 Apr;39(4):225-42. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11950848)
  • Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet. 2000 Nov;37(11):828-30. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11073535)
  • Gene Review (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=phts)
  • Kelly P. Hereditary breast cancer considering Cowden syndrome: a case study. Cancer Nurs. 2003 Oct;26(5):370-5. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14710798)
  • Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet. 2004 May;41(5):323-6. Review. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15121767)
  • Waite KA, Eng C. Protean PTEN: form and function. Am J Hum Genet. 2002 Apr;70(4):829-44. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11875759)
  • Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C. Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet. 2003 Aug;73(2):404-11. Epub 2003 Jul 03. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12844284)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2006
Published: May 4, 2009