Living with Cowden syndrome
A genetic condition with many non-cancerous growths and a higher risk of some cancers, such as breast and thyroid.
Understanding Cowden syndrome
Almost everyone with Cowden syndrome develops hamartomas, most often on the skin and the lining of the mouth and nose, but also in the intestine. The skin growths usually show up by the late twenties. Cancer risk is higher for the breast, thyroid, and uterine lining, and cancers tend to appear earlier, often in the thirties or forties. Other features include a larger head and, in a small share of people, delayed development, intellectual disability, or autism.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Many noncancerous growths (hamartomas)
- Higher risk of breast, thyroid, and uterine cancer
- Colon polyps
- Larger than usual head (macrocephaly)
- Thyroid problems, such as goiter
- Developmental delay in some people
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include cancer specialists, digestive system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
FORCE: Facing Our Risk of Cancer Empowered may keep lists of experts for this condition.
Care & treatment
- Care team
- Cancer specialists (oncologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: FORCE: Facing Our Risk of Cancer Empowered
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with FORCE: Facing Our Risk of Cancer Empowered and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it. GARD doesn't name a gene.
Also known as: cowden disease; cowden's disease; cowden's syndrome; cs; multiple hamartoma syndrome
Patient organizations
- FORCE: Facing Our Risk of Cancer EmpoweredCowden syndrome · United States
- PTEN Hamartoma Tumor Syndrome FoundationCowden syndrome · United States
- American Cancer SocietyCowden syndrome · United States
- CancerCareCowden syndrome · United States
- Klippel-Trenaunay Support GroupCowden syndrome · United States
- Susan G. KomenCowden syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cowden syndrome.
Explore research for Cowden syndrome
Explore actively recruiting Cowden syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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