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Colegio de Medicos y Cirujanos República de Costa Rica
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2012, Number 602

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Rev Med Cos Cen 2012; 69 (602)

Síndrome de Cowden

Vega UGA
Full text How to cite this article

Language: Spanish
References: 12
Page: 309-315
PDF size: 169.37 Kb.


Key words:

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ABSTRACT

Cowden’s Syndrome is a disease caused by mutation in the PTEN gene, with formation of hamartomas at the level of skin, thyroid, breast, gastrointestinal tract, and even lung. Have a predisposition to malignancies such as thyroid and breast cancer, mainly. It Occurs at any age, with an average age of 39 years at the time of diagnosis, with a slight predominance in women. Due his symptomatic diversity, the Internation Cowden Consortium proposed several clinica criteria for diagnosis. The mucocutaneous lesions are the patognomonic feature. Due its potential malignancy, has a poor prognosis, being the management interdisciplinary.


REFERENCES

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  2. Eng C: PTEN: one gene, many syndromes. Hum Mutat 2003, 22:183-198

  3. Gammon A., et al. Hamartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol 23: 219- 231, 2009

  4. Guerra F., et al. Arch Bronconeumol. 2007;43(7):418-20

  5. Gustafson S., et al. Cowden Syndrome. Semin Oncol 2007:34: 428-34

  6. Masmoudi A., et al. J Dermatol Case Rep 2011 1, pp 08-13

  7. Nelen MR, et al. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 1997, 6:1383-1387.

  8. Nelen MR, et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 1996, 13:114-116

  9. Oliviera M., et al. Dermatology Online Journal 2010, 16(1): 7

  10. Smith J., et al. J Clin Endocrinol Metab, January 2011, 96(1):34–37

  11. Squarize C., Castilho R and Gutkind S. Cancer Research 2008, pp 7066-7072.

  12. Vasovèák P., et al. BMC Medical Genetics 2011, 12: 1-4.




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Rev Med Cos Cen. 2012;69