Department of Dentistry, State University of Paraíba (UEPB), Campina Grande, Brazil.
Postgraduate Program in Dentistry, Department of Dentistry, State University of Paraíba (UEPB), Campina Grande, Brazil.
Oral Oncol. 2024 Jan;148:106630. doi: 10.1016/j.oraloncology.2023.106630. Epub 2023 Nov 16.
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.
考登综合征（CS）是一种罕见的遗传性疾病，由 PTEN 肿瘤抑制基因的突变引起，由于其临床表现多样，通常诊断具有挑战性。尽管 CS 与多种类型的癌症密切相关，但 CS 与口腔恶性肿瘤，特别是鳞状细胞癌（SCC）的确切关联仍知之甚少。本报告描述了一例 53 岁女性 CS 晚期诊断的独特病例，该患者后来在下牙槽嵴发生 SCC，即使没有接触到典型的危险因素。强调需要提高医学和牙科领域对 CS 及其口腔表现的认识。早期识别和管理与 CS 相关的疾病对患者的生活质量有重大影响。鼓励发表类似病例，以鼓励进行详细的分析和研究，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关联。
