Cowden syndrome history and symptoms
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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.