Cowden Syndrome 7 C4225179
An autosomal dominant disorder with multiple tumor-like growths and elevated cancer risk. It results from PTEN gene mutations. Management focuses on surveillance and early intervention.
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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Gastrointestinal Manifestation Screening
Colonoscopy and upper endoscopy surveillance for hamartomatous polyps in the GI tract that may cause bleeding, obstruction, or progress to malignancy in rare cases.
Renal Cancer Surveillance Protocol
Regular renal imaging with ultrasound or MRI to detect renal cell carcinoma, which occurs at increased rates in PTEN-related syndromes.
Additional treatment options
Physical Activity Promotion
Regular exercise program designed to reduce cancer risk, maintain healthy weight, and improve cardiovascular health while respecting any physical limitations from syndrome manifestations.
lifestylePolyp Removal and Surveillance
Endoscopic removal of symptomatic or concerning GI polyps with pathologic evaluation to differentiate benign hamartomas from precancerous lesions requiring closer follow-up.
procedureFamily Communication Support
Facilitated discussions and resources to help patients communicate genetic risk information to family members who may also benefit from PTEN testing and surveillance.
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 7 C4225179?
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 R, Kohlmann W, Phoa C, Madlensky L, Temple K, et al. Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a contiguous gene spectrum. NCCN Clinical Practice Guidelines in Oncology. 2023.
Yehia N, Ni Y, Eng C. PTEN hamartoma tumor syndrome: what's new? J Clin Endocrinol Metab. 2020.
Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risk in PTEN hamartoma tumor syndrome. Fam Cancer. 2012.
Marsh DJ, Trauernicht AL, Vanags R, Howard BE, Gohno T, Giardiello FM, et al. Prospective study of surveillance for breast cancer in PTEN mutation carriers. J Natl Cancer Inst. 2023.
Medication Comparisons
Compare medications used to treat Cowden Syndrome 7 C4225179. 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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy