Cowden Syndrome

Cowden syndrome is a rare inherited disorder caused by PTEN gene mutations. It causes multiple noncancerous growths (hamartomas) and increased risk of cancers of the breast, thyroid, endometrium, and other sites.

Table of Contents

Quick Facts

  • ICD-10: Q85.8
  • Inheritance: Autosomal dominant
  • Gene: PTEN

Features

  • Macrocephaly (large head)
  • Multiple skin lesions (trichilemmomas, papillomas)
  • Mucosal papillomas
  • Increased risk of breast cancer, thyroid cancer, endometrial cancer, kidney cancer
  • Hamartomatous polyps of the GI tract
  • Lhermitte-Duclos disease (cerebellar lesion)

Management

  • Genetic testing and counseling
  • Intensive cancer surveillance (breast, thyroid, endometrium, kidney, colorectal)
  • Consider risk-reducing mastectomy
  • Annual thyroid ultrasound
  • Skin surveillance

Related Conditions

Lynch Syndrome

Another inherited cancer syndrome

 Li-Fraumeni Syndrome

Another inherited cancer syndrome
Medical Disclaimer: This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider with questions about a medical condition. If you are experiencing a medical emergency, call your local emergency number immediately.

References

  • National Cancer Institute. PTEN Hamartoma Tumor Syndrome.