Cowden syndrome

Cowden syndrome, also known as Cowden disease, is a rare genetic condition that causes tumor-like growths on your skin. These growths can also occur in other parts of your body, like your intestines, thyroid, breast, and other organs and tissues. They aren’t cancerous, but having the disease can increase your risk of developing cancer.

Penn Medicine’s dermatologists are experienced at diagnosing and treating Cowden syndrome and other genetic disorders of the skin. They work as a team with specialists from a variety of disciplines to perform tests so that you get an accurate diagnosis. Then they create a treatment plan to clear your skin and recommend screenings to detect cancers early when therapies are most effective.

It’s common to notice Cowden syndrome symptoms when you’re in your twenties, although they can appear at any age. Symptoms include tumor-like growths that may look like:

• Bumps that grow in your hair follicles, often on your face and neck
• Raised bumps or hard, smooth spots on your lips or inside your mouth
• Wart-like, clear growths on your hands and feet

Cowden syndrome may also cause your head to be larger than usual, known as macrocephaly, and a rare, noncancerous brain tumor to form. A small number of people with Cowden syndrome have developmental delays, learning disabilities, or autism spectrum disorder.

Cowden syndrome is a genetic disease that you inherit from a parent. It’s caused by a changed gene, called a gene mutation or pathogenic variant, that leads to cells growing uncontrolled.

The disease falls under a group of syndromes called PTEN hamartoma tumor syndrome, which is caused by a gene variation of the PTEN gene. However, not everyone with the disease has a PTEN gene mutation. In some people with Cowden syndrome, other genes are involved.

Having Cowden syndrome increases your risk of developing cancer at a young age, including breast cancer, endometrial cancer, thyroid cancer, colon cancer, rectal cancer, kidney cancer, and melanoma. You’re also more likely to get more than one type of cancer over your lifetime compared with people who don’t have this disease. You’ll need regular screenings, like mammograms, starting at an earlier age than is usually recommended. Talk to your doctor about what cancer screening schedule you should follow.

You’ll have a skin exam and you’ll be asked about your health history, along with your family’s history. Your dermatologist may order blood work and other tests and might take a skin sample for testing. They may also recommend that you see other specialists to determine if you have hamartomas in other areas, like your gastrointestinal tract, which is common in Cowden syndrome. If your health care team thinks you may have Cowden syndrome, they’ll test you for a gene mutation and recommend that you see a genetic counselor.

For a complex, rare disease like Cowden syndrome, it’s important to have a team of specialists who are familiar with the condition and can guide you through the steps of the diagnosis. Penn Medicine’s breadth of expertise across its health system means your dermatologist can work with specialists, like geneticists and oncologists, to do a thorough workup and determine if you have Cowden syndrome. We also help you understand what your genetic test results mean and whether your family members should get tested.

To treat your condition, our dermatologists have access to the latest treatments and may work with several experts, including dermatologic surgeons, dermatopathologists, oncologists, colorectal surgeons, and others. Because we are part of an academic medical center that actively conducts research on genetic skin disease, we have the knowledge and expertise to help you manage Cowden syndrome during every stage of your life.