Cowden Syndrome 5 C3554518
A hereditary disorder characterized by numerous benign growths throughout the body. Patients need lifelong monitoring for cancer risk. Treatment involves removing concerning growths and cancer surveillance.
Key facts at a glance
- ICD-10
- C96.9
- ICD-11
- 2A00.0
- Body system
- oncologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(oncologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Macrocephaly
(neurologic)Thyroid nodules
(endocrine)Mucocutaneous papillomatous papules
(dermatologic)Colorectal polyps
(gastrointestinal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Breast Cancer Screening Protocol
Age-appropriate breast imaging beginning in early adulthood including clinical breast exams, mammography, and breast MRI to maximize early detection in high-risk tissue.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Endometrial Cancer Surveillance
Regular pelvic ultrasound and endometrial sampling for women to detect early endometrial pathology, as uterine cancer risk is elevated in Cowden syndrome.
Additional treatment options
Risk-Reducing Hysterectomy Evaluation
Prophylactic removal of uterus and ovaries after childbearing is completed for significant risk reduction, particularly in patients with strong family history of gynecologic cancers.
surgicalPTEN Mutation Carrier Education Program
Education on syndrome manifestations, warning signs, and importance of adherence to surveillance schedules to empower patients in their own healthcare management.
lifestyleCancer Anxiety Management
Therapeutic interventions including cognitive behavioral therapy to address heightened health anxiety and fear of cancer diagnosis common among mutation carriers.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Cowden Syndrome 5 C3554518?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Miesfeldt S, Eng C. NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer. JNCCN. 2023.
Tan MH, Mester JL, Ngeyi J, Eng C. The diagnostic and therapeutic implications of PTEN mutations in Cowden syndrome and other related disorders. Hum Mol Genet. 2022.
Pilarski R, Burt R, Kohlmann W, Phoon C. PTEN mutation analysis and long-term clinical follow-up in patients with Bannayan-Riley-Ruvalcaba syndrome. Fam Cancer. 2021.
Eng L, Blanke CD. Management of hereditary cancer syndromes: A comprehensive review for the practicing oncologist. Oncology. 2020.
Medication Comparisons
Compare medications used to treat Cowden Syndrome 5 C3554518. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy