Living with PTEN hamartoma tumor syndrome
A group of genetic conditions that cause multiple benign growths called hamartomas, and a higher risk of some tumors.
Understanding PTEN hamartoma tumor syndrome
It includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like syndrome. Cowden syndrome is linked with a high risk of benign and cancerous tumors of the thyroid, breast, and uterus, a large head, and skin differences. It can start at any time in life.
Signs & symptoms
Symptoms vary by type. GARD describes these features:
- Multiple hamartomas (benign growths)
- Large head size (macrocephaly)
- Benign and cancerous tumors of the thyroid, breast, and uterus (Cowden)
- Growths in the intestines (Bannayan-Riley-Ruvalcaba)
- Overgrowth of bones and skin (Proteus-like)
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, 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); 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
This condition is caused by changes in the PTEN gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: phts; pten hamartomatous tumour syndrome; pten-related hamartoma tumor syndrome
Patient organizations
- FORCE: Facing Our Risk of Cancer EmpoweredPTEN hamartoma tumor syndrome · United States
- PTEN Hamartoma Tumor Syndrome FoundationPTEN hamartoma tumor syndrome · United States
- PTEN Research Foundation LtdPTEN hamartoma tumor syndrome · Children's Skin Disease Foundation
You are more than your diagnosis
Perspectives from people navigating life with PTEN hamartoma tumor syndrome.
Explore research for PTEN hamartoma tumor syndrome
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