Cowden Syndrome 1 Cn072330
Cowden syndrome 1 is a genetic disorder causing multiple benign growths and increased cancer risk. It affects various body systems and requires lifelong monitoring. Screening for associated cancers is essential.
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.
Breast lump
(reproductive)Generalized symptoms
(oncologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Mucocutaneous papillomas
(integumentary)Thyroid nodule
(endocrine)Abdominal pain
(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
Comprehensive Cancer Surveillance
Enhanced screening protocol including thyroid ultrasound, breast MRI/mammography, colonoscopy, skin examinations, and endometrial evaluation to detect malignancies early.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Thyroidectomy for Benign/Malignant Disease
Surgical removal of thyroid nodules showing suspicious features or confirmed malignancy to prevent cancer progression.
Additional treatment options
Mammary Tissue Excision
Removal of suspicious breast lesions or prophylactic mastectomy in high-risk patients after thorough genetic counseling and risk assessment.
surgicalSun Protection and Skin Surveillance
Strict sun protection measures including broad-spectrum sunscreen, protective clothing, and regular dermatologist examinations for skin manifestations.
lifestyleGenetic Counseling and Support
Psychological support including genetic counseling for patients and families to cope with hereditary cancer risk and make informed decisions.
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 1 Cn072330?
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.
Pilarski R, Burt RW, Kohlmann W, et al. Cowden syndrome and the PTEN hamartoma tumor syndrome: Systematic review and revised diagnostic criteria. J Natl Compr Canc Netw. 2013;11(11):1323-1332.
Tan MH, Mester J, Peterson C, et al. Clinical analysis of PTEN mutation-positive patients with breast cancer and thyroid cancer. JAMA Oncol. 2017;3(8):1084-1091.
Yehia L, Ngeow J, Eng C. PTEN-opathies: From biological insights to evidence-based precision medicine. J Clin Invest. 2019;129(2):547-559.
Burt RW, Cannon JA, Thompson DS, et al. Colorectal cancer screening and management in PTEN hamartoma tumor syndrome: A meta-analysis. Gastroenterology. 2021;160(5):1644-1658.
Medication Comparisons
Compare medications used to treat Cowden Syndrome 1 Cn072330. 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 25, 2026. · Read our editorial policy