Cowden syndrome

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

Molecular

  • Phosphatase and tensin homolog (PTEN) mutation.[1]
  • Autosomal dominant inheritance.[2]

Notes:

  • Several syndromes are associated with PTEN mutations:[1][3]

Trivia

  • The PTEN gene is located on chromosome ten.

Clinical

Features:[6]

Lame mnemonic PATH:[8]

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

Cancer

Strong association with cancer:[9]

Microscopic

Features:

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

See also

References

  1. 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 601728
  2. Online 'Mendelian Inheritance in Man' (OMIM) 158350
  3. 3.0 3.1 Laury, AR.; Bongiovanni, M.; Tille, JC.; Kozakewich, H.; Nosé, V. (Feb 2011). "Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity.". Thyroid 21 (2): 135-44. doi:10.1089/thy.2010.0226. PMID 21190448.
  4. Online 'Mendelian Inheritance in Man' (OMIM) 153480
  5. 5.0 5.1 Online 'Mendelian Inheritance in Man' (OMIM) 158350
  6. 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.
  7. Al-Daraji, WI.; Ramsay, HM.; Ali, RB. (Jul 2007). "Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome.". J Clin Pathol 60 (7): 840-2. doi:10.1136/jcp.2005.033621. PMID 17513505.
  8. URL: http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm. Accessed on: 6 December 2011.
  9. 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. //www.ncbi.nlm.nih.gov/pmc/articles/PMC2904729/.