Cowden syndrome

Common Name(s)

Cowden syndrome, Cowden's disease

Cowden syndrome (CS) is a genetic condition that causes non-cancerous (benign) tumor-like growths and an increased risk of certain types of cancer. The growths, called hamartomas, are usually found on the skin, as well as in the nose and mouth. Cancers associated with CS are breast, uterus, and thyroid cancer. CS can also increase the risk for colon and rectum (colorectal) cancer, kidney cancer and skin cancer as well as a benign brain tumor called Lhermitte-Duclos disease. People with CS usually develop cancer in their 30s and 40s, which is earlier than most people develop cancer. Other symptoms of Cowden syndrome can include a large head (macrocephaly) and learning issues.

CS is caused by a change (mutation) in one of four different genes, including PTEN, SDHB, SDHD, and KLLN, which are all tumor suppressor genes. Tumor suppressors are involved in controlling cell growth. Typically, cells divide, grow, and die off in a controlled way. However, if a tumor suppressor gene is not working due to a mutation, it can cause a cell to divide faster than it should, leading to cancer. Mutations in the PTEN gene are the most common cause of CS. The condition is inherited in an autosomal dominant way, which means a mutation in only one of two copies of a gene that a person has is enough to cause the condition.

CS is typically suspected if a person has many hamartomas along with a personal or family history of a typical CS related cancer. Once a person is diagnosed with CS, cancer screenings (such as breast ultrasounds (mammograms) and blood tests), are usually recommended to find cancer in its early stages. If you or your child has been diagnosed with CS, talk with a doctor to decide on the best management options. Meeting with a genetic counselor may be helpful to better understand the risks of CS in your family. Support groups are available to connect with other families affected by CS.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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 58 free, full-text research articles on human participants. First 3 results:

Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.
 

Author(s): Amy Taylor, Isabelle Delon, Kieren Allinson, Jamie Trotman, Hongxiang Liu, Stephen Abbs, Marc Tischkowitz

Journal: J. Neuropathol. Exp. Neurol.. 2015 Apr;74(4):288-92.

 

Malignant peripheral nerve sheath tumor is a rare malignancy, accounting for 3% to 10% of all soft-tissue sarcomas. We describe a previously healthy 48-year-old man who was diagnosed as having a high-grade malignant neoplasm involving the facial nerve in the right petrous canal after ...

Last Updated: 18 Mar 2015

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Syndrome in question. A case of Cowden´s syndrome.
 

Author(s): Gabriela Maldonado, Juliano Peruzzo, Mariana Quirino Tubone, Clarissa Prieto Herman Reinehr, Gabriela Fortes Escobar

Journal: An Bras Dermatol. ;90(1):131-3.

 

The authors describe a case of Cowden's syndrome in a female patient with classic cutaneous lesions, plus papillomatous lesions in the gastrointestinal tract and a previous history of thyroid carcinoma. Mucocutaneous lesions occur in 90% of Cowden's syndrome cases and are characterized ...

Last Updated: 12 Feb 2015

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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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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 6 free, full-text review articles on human participants. First 3 results:

Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome.
 

Author(s): Rishi Agarwal, Sarah Liebe, Michelle L Turski, Smruti J Vidwans, Filip Janku, Ignacio Garrido-Laguna, Javier Munoz, Richard Schwab, Jordi Rodon, Razelle Kurzrock, Vivek Subbiah,

Journal: Discov Med. 2015 Feb;19(103):109-16.

 

Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome are cancer syndromes which affect multiple organs and lead to significant decline in quality of life in affected patients. These syndromes are rare and typically affect the adolescent and young adult population, resulting ...

Last Updated: 1 Mar 2015

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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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Symptoms, Diagnosis, and Treatment

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