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Difference between revisions of "Cowden syndrome"
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'''Cowden syndrome''', | '''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== | ||
| Line 7: | Line 11: | ||
*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| | {{Reflist|2}} | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||