Difference between revisions of "Cowden syndrome"

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*Oral papillomas.  
*Oral papillomas.  
*Acral keratoses (peripheral keratoses).
*Acral keratoses (peripheral keratoses).
Lame mnemonic ''PATH'':<ref>URL: [http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm]. Accessed on: 6 December 2011.</ref>
*Papilloma (oral).
*Acral keratosis.
*Trichilemmoma.
*Hamartoma.


===Cancer===
===Cancer===

Revision as of 08:47, 6 December 2011

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]

Lame mnemonic PATH:[3]

  • Papilloma (oral).
  • Acral keratosis.
  • Trichilemmoma.
  • Hamartoma.

Cancer

Strong association with cancer:[4]

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. URL: http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm. Accessed on: 6 December 2011.
  4. 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/.