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Cowden Syndrome

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Acneiform Eruptions in Dermatology

Abstract

Cowden syndrome (CS) is an autosomal dominant genodermatosis and represents one of the clinical disorders on the spectrum linked to the germline mutation in the phosphatase and tensin homolog gene (PTEN). Located on chromosome 10, the PTEN gene is a dual specificity phosphatase which plays various roles in cell migration, apoptosis, and all processes that are important in the regulation of normal cellular growth [1]. Mutations in PTEN have been associated with various other disorders including Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, adult L’hermitte-Duclos disease, and autism-like disorders associated with macrocephaly [2].

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References

  1. Tamguney T, Stokoe D. New insights into PTEN. J Cell Sci. 2007;120(23):4071–9.

    Article  PubMed  CAS  Google Scholar 

  2. Pilarski R. Cowden syndrome: a critical review of the literature. J Genet Counsel. 2009;18:13–27.

    Article  Google Scholar 

  3. Lloyd KM, Denis M. Cowden disease: a possible new symptom complex with multiple symptom involvement. Ann Inten Med. 1963;58:136–42.

    Article  Google Scholar 

  4. Weary PE, Gorlin RJ, Gentry WC, Comer JE, Greer KE. Multiple hematoma syndrome (Cowden disease). Arch Dermatol. 1972;106(5):682–90.

    Article  PubMed  CAS  Google Scholar 

  5. Nelen MR, Kremer H, Konigns IBM, Schoute F, van Essen AJ, Koch R, et al. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype phenotype correlations. Eur J Human Genet. 1999;7:267–73.

    Article  CAS  Google Scholar 

  6. Starlink T, Cander Veen J, Artwert F, Erikson AW. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet. 1986;29:222–33.

    Article  Google Scholar 

  7. Salem OS, Steck WD. Cowden’s disease. A case report and review of the English literature. J Am Acad Dermatol. 1983;8(5):686–96.

    Article  PubMed  CAS  Google Scholar 

  8. Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet. 2004; 41(5):323–6.

    Article  PubMed  CAS  Google Scholar 

  9. Guldberg P, Thor Straten P, Birck A, Ahrenkiel V, Kirkin AF, Zeuthen J. Disruption of the MMAC1/PTEN gene by deletion of mutation is a frequent event in malignant melanoma. Cancer Res. 1997;57(17):3660–3.

    PubMed  CAS  Google Scholar 

  10. Fistarol SK, Marc D, Anliker MS, Peter H. Cowden disease or multiple hamartoma syndrome—cutaneous clue to internal malignancy. Eur J Dermatol. 2002;12(5):411–21.

    PubMed  Google Scholar 

  11. Brownstein MH, Mehregan AH, Bilowski JB. Trichilemmomas on Cowden’s disease. J Am Med Assoc. 1977;238(1):26.

    CAS  Google Scholar 

  12. Devlin MF, Barrie R, Ward-Booth RP. Cowden’s disease: a rare but important manifestation of oral papillomatosis. Br J Oral Maxillofacial Surg. 1992;30:335–6.

    Article  CAS  Google Scholar 

  13. Blumenthal GM, Dennis PA. PTEN hamartoma tumor syndromes. Eur J Human Genet. 2008;16:1289–300.

    Article  CAS  Google Scholar 

  14. Nusbaum R, Vogel JK, Ready K. Susceptibility to breast cancer: hereditary syndromes and low penetrance genes. Breast Dus. 2007;27:21–50.

    Google Scholar 

  15. Schrager CA, Schneider D, Gruener AC. Clinical and pathological features of breast disease in Cowden’s syndrome: an under-recognized syndrome with an increased risk of breast cancer. Human Pathol. 1998;29:47–53.

    Article  CAS  Google Scholar 

  16. Brownstein MH, Wolf M, Bikowski JB. Cowden’s disease: a cutaneous marker of breast cancer. Cancer. 1978;41:2393–8.

    Article  PubMed  CAS  Google Scholar 

  17. Farooq A, Walker LJ, Bowling J, Audisio RA. Cowden syndrome. Cancer Treat Rev. 2010;8: 577–83.

    Google Scholar 

  18. Pilariski R. Cowden syndrome: a critical review. J Genet Counsel. 2009;18:13–27.

    Article  Google Scholar 

  19. Lok C, Viseux V, Avril MF, Richard MA, Gondry-Jouet C, Deramond H, et al. Brain magnetic resonance imaging in patients with Cowden syndrome. Medicine. 2005;84(2):129–36. doi:10.1097/01.md.0000158792.24888.d2.

    Article  PubMed  Google Scholar 

  20. Bagan JV, Penarrocha M, Vera-Sempere F. Cowden syndrome: clinical and pathological considerations in two new cases. J Oral Maxillofacial Surg. 1989;47(3):291–4. doi:10.1016/ 0278-2391(89)90234-6.

    Article  CAS  Google Scholar 

  21. Starink TM. Cowden’s disease: analysis of fourteen new cases. J Am Acad Dermatol. 1984;11(6):1127–41. doi:10.1016/S0190-9622(84)70270-2.

    Article  PubMed  CAS  Google Scholar 

  22. Salem OS, Steck WD (1983) Cowden’s disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literature. J Am Acad Dermatol. 8(5):686–96.aa

    Google Scholar 

  23. Parisi M, Dinulos MB, Leppid KA, Sybert VP, Eng C, Hudgins L. The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. J Med Genet. 2001;38:52–7.

    Article  PubMed  CAS  Google Scholar 

  24. The NCCN 1.2009 Cowden syndrome clinical practice guidelines in oncology. National Comprehensive Cancer Network, 2009. Available from: http://www.nccn.org. Adapted with permission from NCCN [accessed 10.06.09]. (To view the most recent and complete version of the guideline, go online to www.nccn.org).

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Authors and Affiliations

  1. Department of Dermatology, Mount Sinai School of Medicine, New York, NY, USA

    Rita V. Linkner M.D. & Joshua A. Zeichner M.D.

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  1. Rita V. Linkner M.D.
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  2. Joshua A. Zeichner M.D.
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Correspondence to Rita V. Linkner M.D. .

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  1. Mount Sinai Medical Center, New York, USA

    Joshua Zeichner

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Linkner, R.V., Zeichner, J.A. (2014). Cowden Syndrome. In: Zeichner, J. (eds) Acneiform Eruptions in Dermatology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-8344-1_28

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  • DOI: https://doi.org/10.1007/978-1-4614-8344-1_28

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-8343-4

  • Online ISBN: 978-1-4614-8344-1

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