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

Anais Brasileiros de Dermatologia

Ana Carolina Souza Porto¹  Elisabeth Roider¹  Thomas Ruzicka¹ 

关键词: Breast neoplasms;    Genes;    neoplasm;    Hamartoma syndrome;    multiple;    Genes neoplásicos;    Neoplasias da mama;    Síndrome do hamartoma múltiplo;   

DOI  :  10.1590/abd1806-4841.20132578

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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