Cowden syndrome history and symptoms: Difference between revisions
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{{CMG}}; {{AE}} {{VKG}} | {{CMG}}; {{AE}} {{VKG}} | ||
==Overview== | ==Overview== | ||
The | The hallmark of [[cowden syndrome]] is [[Trichilemmoma|Trichilemmomas]]. A positive history of [[PTEN gene|PTEN]] gene [[mutation]] is suggestive of [[cowden syndrome]]. The most common [[symptoms]] of [[cowden syndrome]] include[[Trichilemmoma|trichilemmomas]], [[oral]] [[papillomas]] and acral [[keratoses]] is suggestive of [[cowden syndrome]]. | ||
==History and Symptoms== | |||
*The hallmark of [[cowden syndrome]] is [[Trichilemmoma|trichilemmomas]]. | |||
=== History === | |||
Patients with [[cowden syndrome]] may have a positive history of:<ref name="pmid18385383">{{cite journal |vauthors=Cho YJ, Liang P |title=Killin is a p53-regulated nuclear inhibitor of DNA synthesis |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=105 |issue=14 |pages=5396–401 |date=April 2008 |pmid=18385383 |pmc=2291080 |doi=10.1073/pnas.0705410105 |url=}}</ref> | |||
==History | * [[PTEN gene|PTEN]] gene [[mutation]] | ||
=== | |||
===Common Symptoms=== | ===Common Symptoms=== | ||
Common symptoms of [ | Common [[Symptom|symptoms]] of [[cowden syndrome]] include:<ref name="pmid22486434">{{cite journal |vauthors=Al-Zaid T, Ditelberg JS, Prieto VG, Lev D, Luthra R, Davies MA, Diwan AH, Wang WL, Lazar AJ |title=Trichilemmomas show loss of PTEN in Cowden syndrome but only rarely in sporadic tumors |journal=J. Cutan. Pathol. |volume=39 |issue=5 |pages=493–9 |date=May 2012 |pmid=22486434 |doi=10.1111/j.1600-0560.2012.01888.x |url=}}</ref><ref name="pmid26734858">{{cite journal |vauthors=Tellechea O, Cardoso JC, Reis JP, Ramos L, Gameiro AR, Coutinho I, Baptista AP |title=Benign follicular tumors |journal=An Bras Dermatol |volume=90 |issue=6 |pages=780–96; quiz 797–8 |date=2015 |pmid=26734858 |pmc=4689065 |doi=10.1590/abd1806-4841.20154114 |url=}}</ref><ref name="pmid26375221">{{cite journal |vauthors=Karabulut YY, Şenel E, Karabulut HH, Dölek Y |title=Three different clinical faces of the same histopathological entity: hair follicle nevus, trichofolliculoma and accessory tragus |journal=An Bras Dermatol |volume=90 |issue=4 |pages=519–22 |date=2015 |pmid=26375221 |pmc=4560541 |doi=10.1590/abd1806-4841.20153785 |url=}}</ref><ref name="pmid24136893">{{cite journal |vauthors=Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E |title=Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria |journal=J. Natl. Cancer Inst. |volume=105 |issue=21 |pages=1607–16 |date=November 2013 |pmid=24136893 |doi=10.1093/jnci/djt277 |url=}}</ref> | ||
*[ | *[[Trichilemmoma|Trichilemmomas]] | ||
*[ | *[[Oral]] [[Fibroma|fibromas]] | ||
*[ | *Acral [[keratoses]] | ||
*[[Hamartomas]] | |||
*[[Macrocephaly]] | |||
*[[Autism spectrum disorder]] | |||
*[[Intellectual disability]] | |||
*[[Vascular]] [[abnormalities]] | |||
*[[Genital]] [[lesions]] | |||
===Less Common Symptoms=== | ===Less Common Symptoms=== | ||
Less common symptoms of [ | Less common [[symptoms]] of [[cowden syndrome]] include: | ||
*[ | *Punctate palmoplantar [[keratosis]] | ||
*[ | *[[Epidermal]] [[nevi]] | ||
==References== | ==References== | ||
Latest revision as of 14:51, 5 March 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
The hallmark of cowden syndrome is Trichilemmomas. A positive history of PTEN gene mutation is suggestive of cowden syndrome. The most common symptoms of cowden syndrome includetrichilemmomas, oral papillomas and acral keratoses is suggestive of cowden syndrome.
History and Symptoms
- The hallmark of cowden syndrome is trichilemmomas.
History
Patients with cowden syndrome may have a positive history of:[1]
Common Symptoms
Common symptoms of cowden syndrome include:[2][3][4][5]
- Trichilemmomas
- Oral fibromas
- Acral keratoses
- Hamartomas
- Macrocephaly
- Autism spectrum disorder
- Intellectual disability
- Vascular abnormalities
- Genital lesions
Less Common Symptoms
Less common symptoms of cowden syndrome include:
References
- ↑ Cho YJ, Liang P (April 2008). "Killin is a p53-regulated nuclear inhibitor of DNA synthesis". Proc. Natl. Acad. Sci. U.S.A. 105 (14): 5396–401. doi:10.1073/pnas.0705410105. PMC 2291080. PMID 18385383.
- ↑ Al-Zaid T, Ditelberg JS, Prieto VG, Lev D, Luthra R, Davies MA, Diwan AH, Wang WL, Lazar AJ (May 2012). "Trichilemmomas show loss of PTEN in Cowden syndrome but only rarely in sporadic tumors". J. Cutan. Pathol. 39 (5): 493–9. doi:10.1111/j.1600-0560.2012.01888.x. PMID 22486434.
- ↑ Tellechea O, Cardoso JC, Reis JP, Ramos L, Gameiro AR, Coutinho I, Baptista AP (2015). "Benign follicular tumors". An Bras Dermatol. 90 (6): 780–96, quiz 797–8. doi:10.1590/abd1806-4841.20154114. PMC 4689065. PMID 26734858.
- ↑ Karabulut YY, Şenel E, Karabulut HH, Dölek Y (2015). "Three different clinical faces of the same histopathological entity: hair follicle nevus, trichofolliculoma and accessory tragus". An Bras Dermatol. 90 (4): 519–22. doi:10.1590/abd1806-4841.20153785. PMC 4560541. PMID 26375221.
- ↑ Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E (November 2013). "Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria". J. Natl. Cancer Inst. 105 (21): 1607–16. doi:10.1093/jnci/djt277. PMID 24136893.