Cowden Syndrome

Common Name(s)

Cowden Syndrome, Cowden's Disease

Cowden syndrome is an inherited disorder characterized by multiple noncancerous, tumor-like growths called hamartomas on various areas of the body. Affected individuals are at an increased risk of developing certain cancers, especially cancer of the breast, thyroid or endometrium (lining the uterus). Cowden syndrome is caused by mutations in the PTEN, SDHB, SDHD, and KLLN  genes. This condition is inherited in an autosomal dominant pattern. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cowden Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cowden Syndrome" returned 51 free, full-text research articles on human participants. First 3 results:

Cowden syndrome presenting as breast cancer: imaging and clinical features.
 

Author(s): Mirinae Seo, Nariya Cho, Hye Shin Ahn, Hyeong-Gon Moon

Journal: Korean J Radiol. ;15(5):586-90.

 

Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We ...

Last Updated: 23 Sep 2014

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Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes.
 

Author(s): Katherine L Lachlan

Journal: J. Natl. Cancer Inst.. 2013 Nov;105(21):1595-7.

 

Last Updated: 6 Nov 2013

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Mystery case: Cowden syndrome presenting with partial epilepsy related to focal cortical dysplasia.
 

Author(s): Nicholas D Child, Gregory D Cascino

Journal: Neurology. 2013 Sep;81(13):e98-9.

 

A 55-year-old man presented with seizures characterized by "tightening" of the right side and variable loss of awareness. EEG showed focal epileptogenic abnormalities over left and midline central regions. MRI showed left frontal focal cortical dysplasia (figure 1). He had multiple ...

Last Updated: 24 Sep 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cowden Syndrome" returned 4 free, full-text review articles on human participants. First 3 results:

Cowden Syndrome: report of a case and brief review of literature.
 

Author(s): Ana Carolina Souza Porto, Elisabeth Roider, Thomas Ruzicka

Journal: An Bras Dermatol. ;88(6 Suppl 1):52-5.

 

We present the case of a female patient with facial cutaneous lesions, a cobblestone-like pattern of the oral mucosa, and verruciform lesions on the hand since her youth. She reported a history of breast cancer, endometrial cancer, melanoma and multiple benign tumors and cysts. PTEN ...

Last Updated: 18 Dec 2013

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Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.
 

Author(s): Robert Pilarski, Randall Burt, Wendy Kohlman, Lana Pho, Kristen M Shannon, Elizabeth Swisher

Journal: J. Natl. Cancer Inst.. 2013 Nov;105(21):1607-16.

 

PTEN hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders caused by mutations in the phosphatase and tensin homolog (PTEN) gene. Diagnostic criteria for Cowden syndrome, the principal PTEN-related disorder, were first established in 1996 before the identification of the ...

Last Updated: 6 Nov 2013

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Last Updated: 3 May 2004

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer
 

Status: Recruiting

Condition Summary: Familial Ovarian Cancer; Familial Breast Cancer; BRCA1-associate Malignancies; BRCA2-associated Malignancies

 

Last Updated: 11 Nov 2014

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