Revisão Produção Nacional Revisado por pares

Cowden syndrome: review and report of a case of late diagnosis

2012; Wiley; Volume: 51; Issue: 12 Linguagem: Inglês

10.1111/j.1365-4632.2011.05140.x

ISSN

1365-4632

Autores

Luana Vieira Mukamal, Adriana Fernandes Ferreira, Claudio de Moura astro Jacques, César Augusto Amorim, Juan Piñeiro‐Maceira, Márcia Ramos‐e‐Silva,

Tópico(s)

Fungal Plant Pathogen Control

Resumo

International Journal of DermatologyVolume 51, Issue 12 p. 1494-1499 Case report Cowden syndrome: review and report of a case of late diagnosis Correction(s) for this article Erratum Volume 52Issue 3International Journal of Dermatology pages: 392-392 First Published online: February 17, 2013 Luana V. Mukamal MD, Luana V. Mukamal MD Oral Dermatology Outpatient Clinic, Sector of DermatologySearch for more papers by this authorAdriana F. Ferreira DO, Adriana F. Ferreira DO Oral Dermatology Outpatient Clinic, Sector of DermatologySearch for more papers by this authorClaudio de Moura astro Jacques MD, MS, Claudio de Moura astro Jacques MD, MS Oral Dermatology Outpatient Clinic, Sector of DermatologySearch for more papers by this authorCesar A. F. L. Amorim MD, Cesar A. F. L. Amorim MD Department of Pathology, Clementino Fraga Filho University Hospital and School of Medicine, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, BrazilSearch for more papers by this authorJuan Pineiro-Maceira MD, PhD, Juan Pineiro-Maceira MD, PhD Department of Pathology, Clementino Fraga Filho University Hospital and School of Medicine, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, BrazilSearch for more papers by this authorMarcia Ramos-e-Silva MD, PhD, Marcia Ramos-e-Silva MD, PhD Oral Dermatology Outpatient Clinic, Sector of DermatologySearch for more papers by this author Luana V. Mukamal MD, Luana V. Mukamal MD Oral Dermatology Outpatient Clinic, Sector of DermatologySearch for more papers by this authorAdriana F. Ferreira DO, Adriana F. Ferreira DO Oral Dermatology Outpatient Clinic, Sector of DermatologySearch for more papers by this authorClaudio de Moura astro Jacques MD, MS, Claudio de Moura astro Jacques MD, MS Oral Dermatology Outpatient Clinic, Sector of DermatologySearch for more papers by this authorCesar A. F. L. Amorim MD, Cesar A. F. L. Amorim MD Department of Pathology, Clementino Fraga Filho University Hospital and School of Medicine, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, BrazilSearch for more papers by this authorJuan Pineiro-Maceira MD, PhD, Juan Pineiro-Maceira MD, PhD Department of Pathology, Clementino Fraga Filho University Hospital and School of Medicine, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, BrazilSearch for more papers by this authorMarcia Ramos-e-Silva MD, PhD, Marcia Ramos-e-Silva MD, PhD Oral Dermatology Outpatient Clinic, Sector of DermatologySearch for more papers by this author First published: 21 November 2012 https://doi.org/10.1111/j.1365-4632.2011.05140.xCitations: 13 Professor Marcia Ramos-e-Silva, MD, PhD Rua Dona Mariana 143/C-32 Botafogo 22280-020 Rio de Janeiro RJ, Brazil E-mail: [email protected] Conflicts of interest: None declared. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Salem OS, Steck WD. Cowden's disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literature. J Am Acad Dermatol 1983; 8: 686–696. 2 Mallory SB. Cowden syndrome (multiple hamartomas syndrome). Dermatol Clin 1995; 13: 27–31. 3 Delgado W, Flores G, Concha H. Diagnóstico de síndrome de Cowden a partir de papilomatosis oral. Rev Estomatol Herediana 2006; 16: 46–52. 4 Scheper MA, Nikitakis NG, Sarlani E, et al. Cowden syndrome: report of a case with immunohistochemical analysis and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006; 101: 625–631. 5 Starink TM, van der Veen JP, Arwert F, et al. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 1986; 29: 222–233. 6 Schreibman IR, Baker M, Amos C, et al. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol 2005; 100: 476–490. 7 Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumor syndrome. J Med Genet 2004; 41: 323–326. 8 Stewart KM, Sniezek P, Darling TN. Multiple facial papules and macrocephaly – quiz case. Cowden syndrome (CS). Arch Dernatol 2010; 146: 337–342. 9 Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000; 37: 828–830. 10 Ashton-Prolla P, Ribeiro PI. Síndrome de Cowden. In: Rede Nacional de Câncer Familial: Manual Operacional. Rio de Janeiro: Instituto Nacional de Câncer (INCA), Ministério da Saúde, 2009: 142–146. 11 Lloyd KM II, Dennis M. Cowden's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med 1963; 58: 136–142. 12 Vettorato G, Souza PRM, Bozko MP, et al. Doença de Cowden ou síndrome dos hamartomas múltiplos. An Bras Dermatol 2003; 78: 209–213. 13 Taylor AJ, Dodds WJ, Stewart ET. Alimentary tract lesions in Cowden's disease. Br J Radiol 1989; 62: 890–892. 14 Chibon F, Primois C, Bressieux JM, et al. Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridization (MAPH) screening approach. J Med Genet 2008; 45: 657–665. 15 Lynch NE, Lynch SA, McMenamin J, et al. Bannayan–Riley–Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. Arch Dis Child 2009; 94: 553–554. 16 Perriard J, Saurat JH, Harms M. An overlap of Cowden's disease and Bannayan–Riley–Ruvalcaba syndrome in the same family. J Am Acad Dermatol 2000; 42: 348–350. 17 Sakamoto Y, Nakajima H, Kishi K, et al. Management of craniofacial hyperostosis in Proteus syndrome. J Craniofac Surg 2010; 21: 414–418. 18 Lazar AP, Lazar P. Cowden's disease (multiple hamartoma and neoplasia syndrome) treated with isotretinoin. J Am Acad Dermatol 1986; 14: 142–144. 19 Adkisson K, Fiala KH. Cowden disease (multiple hamartoma syndrome): treatment and medication. E-medicine. http://emedicine.medscape.com/article/1093383-treatment. [Accessed February 26, 2011.] 20 Dennis PA. Sirolimus to treat Cowden syndrome and other PTEN hamartomatous tumor syndromes. Bethesda, MD: National Cancer Institute (NCI), http://clinicaltrials.gov/ct2/show/NCT00722449?term=PTEN+rapamycin&rank=2. [Accessed February 26, 2011.] Citing Literature Volume51, Issue12December 2012Pages 1494-1499 ReferencesRelatedInformation

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