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Cowden Syndrome

What is Cowden syndrome?

Cowden syndrome is an inherited disease that is a part of the PTEN Hamartoma Tumor Syndrome spectrum of disorders, which you can learn about more here. A distinctive characteristic of it is the presence of hamartomas, which are noncancerous tumors growing on various parts of the body. People with Cowden syndrome also have an increased chance of developing cancer. Researchers estimate that Cowden syndrome affects 1 in 200,000 people, although it is likely underdiagnosed. It affects men and women equally.

What are the symptoms of Cowden syndrome?

Symptoms can vary greatly from person to person, meaning that people with the same disease may not have all of the symptoms listed below:
  • Hamartomas that appear on the skin, mucous membranes, and/or any organ like the intestinal tract
  • Macrocephaly, or a larger than normal head size
  • Skin lesions (which usually appear by the late twenties)
  • White papules with a smooth surface in the mouth
  • Benign tumors in hair follicles
  • Intellectual disabilities
  • Autism spectrum disorder
  • Vascular abnormalities
  • A rare, noncancerous brain tumor called Lhermitte-Duclos disease
Cowden syndrome can also lead to cancer in the:
  • thyroid
  • breast
  • uterus
  • kidneys
  • and/or colon
People with Cowden syndrome are more likely to develop cancer at an earlier age than average (before age fifty).

What causes Cowden syndrome?

Cowden syndrome is caused by mutations in the PTEN gene, a gene that works to suppress tumors. Human traits are inherited from a person’s father and mother; each one contributes a copy of a gene, which interacts with the other copy. When the PTEN gene mutates it can’t carry out its functions, which allows the development of the various tumors and cancers associated with Cowden syndrome. To learn more about the PTEN gene and its mutations, click here. Very rarely, Cowden syndrome can be caused by mutations in other genes, like KLLN, SDHB, SDHC, or SDHD, but the majority of cases are caused by PTEN mutations.

How is Cowden syndrome diagnosed?

Cowden syndrome is diagnosed using the following procedures:
  • Genetic testing for PTEN gene mutations
  • The presence of characteristic symptoms

What are the treatments for Cowden syndrome?

Treatment includes but is not limited to:
  • Consistent screening for the various cancers this syndrome can lead to
  • Surgery
  • Removal of serious skin lesions
  • Topical treatments
  • Genetic counseling

Where can I find out more about Cowden syndrome?

Cowden Syndrome Articles