Cowden syndrome

Cowden syndrome, also known as Cowden disease, is constellation of findings due to a PTEN gene mutation.

Molecular

• Phosphatase and tensin homolog (PTEN) mutation.
• Autosomal dominant inheritance.

Notes:

• Several syndromes are associated with PTEN mutations:
  • Bannayan-Riley-Ruvalcaba syndrome (BRRS).
  • Proteus-like syndrome.
  • Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum).

Trivia

• The PTEN gene is located on chromosome ten.

Clinical

Features:

• Hamartomatous polyps.
• Facial trichilemmomas - hair follicle root sheath epithelium tumour.
• Oral papillomas.
• Acral keratoses (peripheral keratoses).
• Storiform collagenoma.

Lame mnemonic PATH:

• Papilloma (oral).
• Acral keratosis.
• Trichilemmoma.
• Hamartomatous polyps.

Cancer

Strong association with cancer:

• ~90% lifetime risk for cancer.
• Specific types of cancer (lifetime risk) - numbers rounded:
  • ~80% breast cancer (in females).
  • ~20% thyroid cancer.
    • Predominantly papillary thyroid carcinoma and follicular thyroid carcinoma - in that order.
  • ~20% endometrial cancer.
  • ~15% renal cancer.
  • ~15% colorectal cancer.

Microscopic

Features:

• Hamartomatous polyp - features non-specific. (???)

See also

• Intestinal polyps.
• Endometrial carcinoma.