Difference between revisions of "Cowden syndrome"

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'''Cowden syndrome''', [[AKA]] '''Cowden syndrome''', is constellation of findings due to a PTEN gene mutation.
'''Cowden syndrome''', also known as '''Cowden disease''', is constellation of findings due to a PTEN gene mutation.
 
==Molecular==
*PTEN mutation.
*Autosomal dominant inheritance.<ref name=OMIM158350>{{OMIM|158350}}</ref>


==Clinical==
==Clinical==
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*Oral papillomas.  
*Oral papillomas.  
*Acral keratoses (peripheral keratoses).
*Acral keratoses (peripheral keratoses).
===Cancer===
Strong association with cancer:<ref name=pmid20565722>{{Cite journal  | last1 = Riegert-Johnson | first1 = DL. | last2 = Gleeson | first2 = FC. | last3 = Roberts | first3 = M. | last4 = Tholen | first4 = K. | last5 = Youngborg | first5 = L. | last6 = Bullock | first6 = M. | last7 = Boardman | first7 = LA. | title = Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. | journal = Hered Cancer Clin Pract | volume = 8 | issue = 1 | pages = 6 | month =  | year = 2010 | doi = 10.1186/1897-4287-8-6 | PMID = 20565722 | PMC = 2904729 }}</ref>
*~90% lifetime risk.
**~80% [[breast cancer]] risk in females.
**~20% [[thyroid cancer]].
**~20% [[endometrial cancer]].
**~15% [[renal cancer]].
**~15% [[colorectal cancer]].


==Microscopic==
==Microscopic==
Features:
Features:
*Hamartomatous polyp - features non-specific. (???)
*Hamartomatous polyp - features non-specific. (???)
==See also==
*[[Intestinal polyps]].
*[[Endometrial carcinoma]].


==References==
==References==
{{Reflist|1}}
{{Reflist|2}}


[[Category:Syndromes]]
[[Category:Syndromes]]

Revision as of 13:47, 29 June 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]

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/.