What is Gardner syndrome?
Gardner syndrome is a rare, inherited disorder that leads to the growth of noncancerous tumors in several parts of your body, including your skin, soft tissue, and bones. The disorder also causes colon polyps and is linked to a higher risk of colon cancer. Getting an accurate diagnosis can help you understand your cancer risk and how best to treat your symptoms.
Penn Medicine’s dermatologists are experienced at recognizing the skin symptoms of Gardner syndrome so that you can get diagnosed quickly. During your treatment, our dermatologists work with gastroenterologists, oncologists, and other specialists to bring you a wide range of therapies that can shrink or remove your tumors. Your health care team can also create a tailored cancer screening plan so that cancer can be caught and treated early.
Gardner syndrome symptoms
On your skin, your symptoms may include:
- Cysts that grow on your face, neck, or torso
- Noncancerous tumors that form in connective tissue, called fibromas, that may occur anywhere in your body
- Fatty tissue that collects under your skin, known as lipomas, commonly found on your back, trunk, arms, shoulders, and neck
- Growths in connective tissue, called desmoid tumors, in your arms, legs, or stomach that can grow quickly
It’s also common to have a large number of colon polyps, extra teeth, and tumors that form on your bones, including on your skull and on shin and thigh bones. Noncancerous tumors may also grow in the linings of your organs and glands, like your adrenal and salivary glands. And you can have dark spots on the tissue at the back of your eyes, known as your retinas.
Causes of Gardner syndrome
Gardner syndrome is a form of a genetic disease called familial adenomatous polyposis (FAP). Most often, the disorder is passed down from a parent through a variation of the APC gene, also known as a gene mutation. APC suppresses the growth of tumors, but the altered gene (or pathogenic variant) allows cells in your body to grow uncontrolled.
Gardner syndrome and cancer
This disorder causes hundreds of colon polyps to form by the time you’re a teenager, which often leads to colon cancer between ages 30 and 50. Gardner syndrome also increases your risk of developing cancer in your stomach, small bowel, thyroid, pancreas, central nervous system, liver, bile ducts, and the adrenal gland.
Treatments can help lower your risk, and cancer screenings, like colonoscopies, can find cancers early when therapies are most effective. Talk to your doctor about your cancer risk and follow your health care team’s recommendations about which screening tests you need and when you should start them.
Diagnosing Gardner syndrome
Your dermatologist will perform a skin exam and ask about your health history and your family’s health conditions. A sample of your skin, called a biopsy, may be taken for testing. You’ll also be asked about other symptoms, like whether you have other tumors or extra teeth. If your health care team thinks you may have Gardner syndrome, they’ll check you for the APC gene mutation. You may also need an eye exam and several tests from other specialists to check for tumors in other parts of your body.
Treatment for Gardner syndrome
Skin symptoms that aren’t bothering you may only need monitoring. If treatment is needed, medications can shrink the tumors on your skin, or surgical procedures can remove them. You’ll see other specialists for certain types of tumors, like desmoid tumors, which can be treated with medications, therapies, or surgery. If you have several or advanced colon polyps, you may need part or all of your colon or rectum removed.
Gardner syndrome care from experts in genetic skin diseases
Penn Medicine’s dermatologists coordinate with other specialists across our health system to diagnose and treat Gardner syndrome. They work with genetic experts and our nationally known dermatopathologists, who examine skin samples and provide an accurate and timely diagnosis of skin conditions. If you were diagnosed with Gardner syndrome as a child or adolescent, our dermatology team collaborates with pediatricians, including those at Children’s Hospital of Philadelphia, to help you make a smooth transition to adult care.
Our team also works with dermatologic surgeons, oncologists, colorectal surgeons, and other specialists to provide advanced treatments that address all your symptoms and potential complications. Having a genetic disorder can be challenging, but our experts are here to help you manage your symptoms now and into the future.