People with Cowden syndrome also typically have a larger-than-average head size and may experience developmental or learning delays.
Experts estimate that Cowden syndrome affects roughly one in 250,000 people.
Reproduced with permission from DermNetdermnetnz.org2023.
Verywell / Theresa Chiechi
Cowden Syndrome Symptoms
Cowden syndrome has several main symptoms.
They usually develop by the time a person reaches adulthood.
This means it’s a genetic abnormality inherited through your parents.
Reproduced with permission from © DermNetdermnetnz.org2023.
They play an important role in preventing the development ofcancer cells.
When it functions normally, PTEN can help control cell growth.
The result is the development of various noncancerous and cancerous tumors that are characteristic of Cowden syndrome.
Reproduced with permission from © DermNetdermnetnz.org2023.
This related group of disorders is known in the medical field as PTEN hamartoma tumor syndrome, or PHTS.
In those cases, the exact cause of Cowden syndrome is unknown.
These healthcare professionals will work together to give an accurate diagnosis.
Patient education also is an important component when living with Cowden syndrome.
Experts recommend that patients take part in learning aboutpreventive tactics.
These approaches can be helpful in managing overall care and quality of life for Cowden syndrome.
Individuals may also have a larger head size and developmental or learning delays.
Treatment includes screening for cancer so it may be caught early.
Don’t be afraid to bring up any pain or discomfort you’re feeling, either.
Frequently Asked Questions
Can a parent pass down a risk for hamartomas to their child?
Cowden syndrome is inherited through whats known as the autosomal dominant inheritance pattern.
How rare is Cowden syndrome?
Cowden syndrome is fairly rare, though its likely underdiagnosed in the first place.
Experts estimate that it affects about one in 200,000 people, but that number might be larger.
Males and females are equally affected, as are people of all racial and ethnic groups.
What are the symptoms of Cowden syndrome?
A larger-than-average sized head or developmental delays may also be noticeable.
Is Cowden syndrome preventable?
Experts recommend vigorous cancer screening schedules to monitor for both cancerous and noncancerous growths on the body.
Routine screening for patients diagnosed with Cowden syndrome should start immediately.
2017;90(1071):20160607. doi:10.1259/bjr.20160607
American Cancer Society.Cowden syndrome.
University of Iowa Hospitals & Clinics.Cowden syndrome: A guide for patients and their families.
2016;10(11):ED06ED07.
2016;9:8392. doi:10.2147/TACG.S41947
MedlinePlus.Cowden syndrome.
National Human Genome Research Institute.Tumor suppressor gene.
January 2013; 92(1):76-80. doi:10.1016/j.ajhg.2012.10.021
Genetic and Rare Diseases Information Center.Cowden syndrome.
Genetic and Rare Diseases Information Center.Cowden syndrome treatment.
National Comprehensive Cancer connection.Genetic/familial high-risk assessment: Breast and ovarian.
Yehia L, Eng C.PTEN hamartoma tumor syndrome.
GeneReviews [Internet].
American Osteopathic College of Dermatology.Cowden syndrome.
National Organization for Rare Disorders.PTEN hamartoma tumor syndrome.
Cleveland Clinic.PTEN hamartoma tumor syndrome, Cowden syndrome, and Bannayan-Riley-Ruvalcaba syndrome.