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Cowden Syndrome

Cowden Syndrome



Cowden syndrome is a rare genetic (inherited) condition. People with Cowden syndrome often have many noncancerous, tumor-like growths. They may also have an increased risk of developing certain cancers.

Symptoms

Most people are in their 20s before they notice changes in their body that may be Cowden syndrome signs and symptoms. People may be diagnosed with Cowden syndrome after seeking medical care for hamartomas or early-onset cancer.

Hamartomas (pronounced “HA-mar-TOH-muhs”) are among the obvious and most common signs of Cowden syndrome. Hamartomas are noncancerous, tumor-like growths that can grow anywhere on or in your body but typically appear on your neck, face or head. Other Cowden syndrome symptoms include:

A large head (macrocephaly).

Small, smooth growths that form on your skin (trichilemmomas).

Clear bumps on the soles of your feet, palms and the back of your hands (acral keratosis).

Wart-like bumps on your tongue, gums, the back of your throat and your tonsils (oral papillomatosis).

It’s important to remember you may have some of these symptoms and not have Cowden syndrome. In general, healthcare providers may suspect Cowden syndrome if you have a combination of specific symptoms.

Causes

Cowden syndrome happens when you inherit certain genetic mutations.

In Cowden syndrome, abnormal cells grow uncontrollably and don’t die when they normally would. Eventually, the cells form growths like hamartomas or noncancerous tumors.

Scientists are still learning about all the inherited gene changes that increase cancer risk, including those involved in Cowden syndrome. Some people with Cowden syndrome don’t have a mutated PTEN gene. In a small set of people with Cowden syndrome, researchers found other mutated genes, including PIK3CA/AKT1, SDHB-D, KLLN and SEC23B. Medical researchers continue to look for links between Cowden syndrome and other genetic mutations.

Diagnosis

Cowden syndrome is a complicated disease with several different symptoms and related conditions. You may have one or more of these conditions or symptoms, but that doesn’t mean you have Cowden syndrome.

To diagnose Cowden syndrome, healthcare providers compare your situation with diagnostic criteria developed by medical professionals who specialize in genetic (inherited) cancer syndromes. The process involves comparing your situation with major and minor criteria. A Cowden syndrome diagnosis means you have a specific combination of conditions.

Providers may suspect you have Cowden syndrome if you have:

Three of the major conditions, excluding macrocephaly.

One major condition or three minor conditions.

Four minor conditions.

A relative who has Cowden syndrome or related conditions like Bannayan-Riley-Ruvalcaba syndrome (BRRS).

Criteria for Cowden syndrome

Major criteria

Breast cancer.

Endometrial cancer.

Follicular thyroid cancer.

Many hamartomas in your gastrointestinal (GI) tract.

Macrocephaly.

Pigmented macule (darker spot) on the glans penis (head).

A biopsied trichilemmoma, meaning tissue samples studied under a microscope show signs of trichilemmoma.

Many spots of thickened skin on your hands and feet (palmoplantar keratosis).

Many wart-like growths in your mouth (oral mucosal papillomatosis).

Many wart-like growths on your face (cutaneous facial papules).

Minor criteria

Colon cancer.

Esophageal glycogenic acanthosis.

Autism spectrum disorder.

Learning disabilities.

Papillary thyroid cancer.

Thyroid issues such as goiters and adenomas.

Kidney cancer.

Lipomas.

A single hamartoma in your GI tract.

Testicular lipomatosis.

If your provider believes you may have Cowden syndrome, they’ll take your family history and order genetic testing to determine if you have a genetic mutation.

Treatment

Cowden syndrome is linked to several different conditions, including skin issues and cancer. Often, people learn they have Cowden syndrome because they’re receiving treatment for conditions linked to the syndrome. But people with Cowden syndrome who don’t have cancer need regular, early cancer screenings, including:

Breast cancer: Annual mammogram starting at age 30. People with dense breasts may also have magnetic resonance imaging (MRI) scans.

Thyroid cancer: Annual thyroid ultrasound, starting at age 7, unless you have symptoms (like a lump in your thyroid or difficulty swallowing).

Type of Doctor Department : Oncologists, dermatologists

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