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Oral Oncol ; 148: 106630, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37979468

ABSTRACT

Cowden Syndrome (CS) is a rare genetic disease caused by mutations in the PTEN tumor suppressor gene, often presenting a challenging diagnosis due to its diverse clinical manifestations. Although extensively linked to several types of cancer, the precise association between CS and oral malignancies, particularly squamous cell carcinoma (SCC), remains poorly understood. This report describes a unique case of late diagnosis of CS in a 53-year-old female patient who later developed SCC in the inferior alveolar ridge, even without exposure to classic risk factors. The need to increase awareness in the medical and dental communities about CS and its manifestations in the oral cavity is highlighted. Early recognition and management of conditions associated with CS have a significant impact on patients' quality of life. Encouraging the publication of similar cases is recommended to encourage detailed analyzes and investigations in order to better understand the possible association between the syndrome and the development of malignancies in the oral cavity.


Subject(s)
Carcinoma, Squamous Cell , Hamartoma Syndrome, Multiple , Head and Neck Neoplasms , Mouth Neoplasms , Female , Humans , Middle Aged , Hamartoma Syndrome, Multiple/complications , Hamartoma Syndrome, Multiple/diagnosis , Hamartoma Syndrome, Multiple/genetics , Carcinoma, Squamous Cell/complications , Carcinoma, Squamous Cell/diagnosis , Squamous Cell Carcinoma of Head and Neck/complications , Quality of Life , Mouth Neoplasms/complications , Mouth Neoplasms/diagnosis , PTEN Phosphohydrolase/genetics , Head and Neck Neoplasms/complications
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