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.
摘要:
Cowden综合征(CS)是一种罕见的遗传性疾病,由PTEN抑癌基因的突变引起,由于其不同的临床表现,通常提出具有挑战性的诊断。尽管与几种癌症有广泛的联系,CS和口腔恶性肿瘤之间的精确关联,特别是鳞状细胞癌(SCC),仍然知之甚少。本报告描述了一名53岁女性患者晚期诊断为CS的独特病例,该患者后来在下牙槽脊发展为SCC,即使没有暴露于经典的危险因素。强调需要提高医学界和牙科界对CS及其在口腔中的表现的认识。早期识别和管理与CS相关的疾病对患者的生活质量有显著影响。建议鼓励发表类似病例,以鼓励进行详细的分析和调查,以便更好地了解该综合征与口腔恶性肿瘤发展之间的可能联系。