Cowden Syndrome: report of a case and brief review of literature

التفاصيل البيبلوغرافية
العنوان: Cowden Syndrome: report of a case and brief review of literature
المؤلفون: Porto, Ana Carolina Souza, Roider, Elisabeth, Ruzicka, Thomas
المصدر: Anais Brasileiros de Dermatologia. December 2013 88(6)
بيانات النشر: Sociedade Brasileira de Dermatologia, 2013.
سنة النشر: 2013
مصطلحات موضوعية: Breast neoplasms, Genes, neoplasm, Hamartoma syndrome, multiple
الوصف: We present the case of a female patient with facial cutaneous lesions, a cobblestone-like pattern of the oral mucosa, and verruciform lesions on the hand since her youth. She reported a history of breast cancer, endometrial cancer, melanoma and multiple benign tumors and cysts. PTEN gene analysis was performed and confirmed Cowden Syndrome, a rare genodermatosis with an autosomal dominant pattern of inheritance, characterized by multiple hamartomas. The phosphatase and tensin homolog (PTEN) gene negatively regulates cell proliferation and cell cycle progression. Loss of PTEN function contributes to an increased risk of cancer. We emphasize the importance of early detection and accurate management of Cowden Syndrome.
نوع الوثيقة: report
وصف الملف: text/html
اللغة: English
تدمد: 0365-0596
DOI: 10.1590/abd1806-4841.20132578
URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000800052
حقوق: info:eu-repo/semantics/openAccess
رقم الأكسشن: edssci.S0365.05962013000800052
قاعدة البيانات: SciELO
الوصف
تدمد:03650596
DOI:10.1590/abd1806-4841.20132578