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Difference between revisions of "Cowden syndrome"
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*Phosphatase and tensin homolog (PTEN) mutation.<ref name=omim601728>{{OMIM|601728}}</ref> | *Phosphatase and tensin homolog (PTEN) mutation.<ref name=omim601728>{{OMIM|601728}}</ref> | ||
*Autosomal dominant inheritance.<ref name=OMIM158350>{{OMIM|158350}}</ref> | *Autosomal dominant inheritance.<ref name=OMIM158350>{{OMIM|158350}}</ref> | ||
Notes: | |||
*Several syndromes are associated with PTEN mutations:<ref name=omim601728>{{OMIM|601728}}</ref><ref name=pmid21190448>{{Cite journal | last1 = Laury | first1 = AR. | last2 = Bongiovanni | first2 = M. | last3 = Tille | first3 = JC. | last4 = Kozakewich | first4 = H. | last5 = Nosé | first5 = V. | title = Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. | journal = Thyroid | volume = 21 | issue = 2 | pages = 135-44 | month = Feb | year = 2011 | doi = 10.1089/thy.2010.0226 | PMID = 21190448 }}</ref> | |||
**Bannayan-Riley-Ruvalcaba syndrome (BRRS).<ref name=omim153480>{{OMIM|153480}}</ref> | |||
**Proteus-like syndrome.<ref name=omim158350>{{OMIM|158350}}</ref> | |||
**[[Lhermitte-Duclos disease]] (dysplastic gangliocytoma of the cerebellum).<ref name=omim158350>{{OMIM|158350}}</ref> | |||
===Trivia=== | ===Trivia=== | ||
*The ''PTEN gene'' is located on chromosome ten. | *The ''PTEN gene'' is located on chromosome ten. | ||
==Clinical== | ==Clinical== | ||
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*Oral papillomas. | *Oral papillomas. | ||
*Acral keratoses (peripheral keratoses). | *Acral keratoses (peripheral keratoses). | ||
*Storiform collagenoma.<ref name=pmid17513505>{{Cite journal | last1 = Al-Daraji | first1 = WI. | last2 = Ramsay | first2 = HM. | last3 = Ali | first3 = RB. | title = Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome. | journal = J Clin Pathol | volume = 60 | issue = 7 | pages = 840-2 | month = Jul | year = 2007 | doi = 10.1136/jcp.2005.033621 | PMID = 17513505 }}</ref> | |||
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> | 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> | ||