Cowden syndrome

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

Molecular

  • PTEN mutation.
  • Autosomal dominant inheritance.[1]

Trivia

  • The PTEN gene is located on chromosome ten.

Clinical

Features:[2]

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

Cancer

Strong association with cancer:[3]

Microscopic

Features:

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

See also

References

  1. Online 'Mendelian Inheritance in Man' (OMIM) 158350
  2. Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). Robbins and Cotran pathologic basis of disease (7th ed.). St. Louis, Mo: Elsevier Saunders. pp. 858-9. ISBN 0-7216-0187-1.
  3. Riegert-Johnson, DL.; Gleeson, FC.; Roberts, M.; Tholen, K.; Youngborg, L.; Bullock, M.; Boardman, LA. (2010). "Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients.". Hered Cancer Clin Pract 8 (1): 6. doi:10.1186/1897-4287-8-6. PMC 2904729. PMID 20565722. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2904729/.