title: Cowden Syndrome: report of a case and brief review of literature.
abstract: 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.
authors.affiliation: Ludwig-Maximilian University of Munich, Medical Department of Dermatology and Allergy, Germany.
authors.forename: Ana Carolina Souza
authors.initials: AC
authors.lastname: Porto
authors.affiliation: Ludwig-Maximilian University of Munich, Medical Department of Dermatology and Allergy, Germany.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Roider
authors.affiliation: Ludwig-Maximilian University of Munich, Department of Dermatology and Allergy, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Ruzicka
mesh_terms: D001706:Biopsy; D001943:Breast Neoplasms / Q000150:complications; D042241:Early Diagnosis; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008875:Middle Aged; D051059:PTEN Phosphohydrolase / Q000235:genetics; D012307:Risk Factors; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology*
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human