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Oral Oncol ; 148: 106630, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37979468

RESUMO

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.


Assuntos
Carcinoma de Células Escamosas , Síndrome do Hamartoma Múltiplo , Neoplasias de Cabeça e Pescoço , Neoplasias Bucais , Feminino , Humanos , Pessoa de Meia-Idade , Síndrome do Hamartoma Múltiplo/complicações , Síndrome do Hamartoma Múltiplo/diagnóstico , Síndrome do Hamartoma Múltiplo/genética , Carcinoma de Células Escamosas/complicações , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas de Cabeça e Pescoço/complicações , Qualidade de Vida , Neoplasias Bucais/complicações , Neoplasias Bucais/diagnóstico , PTEN Fosfo-Hidrolase/genética , Neoplasias de Cabeça e Pescoço/complicações
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