Cowden syndrome is a rare genetic condition with many names. It’s also known as Cowden’s disease and PTEN Hamartomatous Tumor syndrome, or PHTS. Doctors refer to one unusual form of the disorder as Bannayan-Ruvalcaba-Riley syndrome. Patients with this condition suffer from a lot of noncancerous grows called hamartomas that look like tumors.
Individuals with Cowden syndrome are at an elevated risk for developing cancer of the breast, thyroid, and endometrium, according to Genetics Home Reference. The hamartomas characteristic of the condition occur most frequently on the skin and mucous membranes such as the lining of the nose and mouth. However, they sometimes occur in the intestines.
Abnormal grows usually begin to appear by the time an individual reaches his or her late twenties. The disease affects around 1 in 200,000 individuals. However, researchers estimate that since diagnosing it is so hard, Cowden syndrome might be more prevalent than those numbers suggest.
The genetic mutation associated with this illness causes a failure in preventing cells from growing too quickly or in an uncontrolled manner.
Signs and Symptoms
Many individuals have an enlarged head, a condition known as macrocephaly. Some suffer from a rare benign brain tumor known as Lhermitte-Duclos disease.
The University of Texas M.D. Anderson Cancer Center indicates that among the common Cowden’s signs are learning disabilities, autism, and/or mental retardation. The bumps or lesions on the skin of so many patients represent various types. The most common include trichilemmomas located on the face, cobblestone-like papillomatous lesions on the face or mucous membranes like gums, and hard skin growths found on the palms of the hand or soles of the feet.
Cowden syndrome puts its sufferers at high risk for developing both benign and malignant tumors. Both males and females have 10 times the risk the general population faces for developing thyroid cancer. Women with this disorder have a 25 to 50 percent risk of developing breast cancer at some point as compared to the average lifetime rate of around 12 percent. Kidney cancer isn’t uncommon among Cowden patients.
The types of non-cancerous problems that most commonly develop in individuals with this syndrome include a goiter, a benign thyroid tumor, uterine fibroids, and fibrocystic breast changes. Also on the list are polyps in the stomach, small intestine, or colon as well as lipomas and fibromas.
Diagnosis and Treatment
The first two steps for determining whether a patient has Cowden syndrome are conducting a thorough physical exam and taking a detailed family history. Dermatologists and genetic counselors should be involved.
If the patient shows symptoms of the disorder, the third step is performing genetic testing on a blood sample. Since these tests aren’t always accurate, it’s possible to have the illness and still miss a correct diagnosis. However, when tests reveal the presence of the associated gene mutation, it’s possible to test the individual and family members to predict the likelihood of the disorder.
Experts have no cure for Cowden syndrome. There is no specific treatment. Since it’s associated with elevated risk for developing so many other illnesses, doctors typically insist on vigilance in heeding cancer prevention and early detection screening guidelines.
All Cowden patients who are female need to follow medical directives for age-appropriate breast cancer screening. In addition, some of them might want to consider the removal of both breasts before the occurrence of cancer.
Both men and women affected with this condition should have a baseline thyroid ultrasound exam at 18 plus yearly checks thereafter if the doctor considers this necessary. All patients should undergo a yearly comprehensive physical as well as an annual skin check by a dermatologist. Females should consult with a gynecologist or gynecologic oncologist to determine the appropriate screening for uterine cancer.
Experts recommend that all Cowden syndrome patients stay in regular contact with their respective genetics clinics to stay informed of any new developments regarding this inherited disorder.