Barrón-Márquez Mariana Cristina, González-González Rogelio, Bobadilla-Morales Lucina, Rodriguez-Machuca Victor Ulises, Bologna-Molina Ronell, Molina-Frechero Nelly, Tremillo-Maldonado Omar Alejandro, López-Verdín Sandra
Oral Pathology and Medicine, Department of Integral Dental Clinics, University Center of Health Sciences, Universidad de Guadalajara, Guadalajara, Mexico.
Research Department, School of Dentistry, Juarez University of the Durango State, Durango, Mexico.
Am J Case Rep. 2025 Jan 12;26:e945876. doi: 10.12659/AJCR.945876.
BACKGROUND Cowden syndrome is a genetic disorder that predisposes individuals to cancer and is characterized by hamartomas derived from 3 germ layers. Although the clinical signs can be pathognomonic, diagnosis is often aided by biopsies, histopathological examination of oral and cutaneous lesions, and genetic studies, including multiple ligation-dependent probe amplification (MLPA). CASE REPORT We report a case of a 35-year-old woman who manifested with multiple lesions in the buccal mucosa, dorsum of the tongue, and gums, along with papillomatous papules on her facial skin and the dorsal surfaces of her hands. These lesions were identified as hamartomas. Laboratory tests, including blood biometry, blood chemistry, and coagulation profiles, returned results within normal ranges. Her medical history revealed uterine fibroids, raising suspicion of Cowden syndrome. A genetic consultation confirmed the diagnosis, revealing a heterozygous PTEN deletion. CONCLUSIONS This case illustrates the importance of a multidisciplinary approach in diagnosing Cowden syndrome, especially the role of dental professionals in recognizing early clinical signs. Early diagnosis through genetic testing is crucial due to the patient's elevated risk of malignancies. Healthcare providers must remain vigilant to syndromes such as Cowden syndrome, particularly in patients with relevant family histories, to ensure timely intervention and comprehensive management.
考登综合征是一种遗传性疾病，使个体易患癌症，其特征是源自三个胚层的错构瘤。尽管临床体征可能具有特征性，但诊断通常借助活检、口腔和皮肤病变的组织病理学检查以及基因研究，包括多重连接依赖探针扩增（MLPA）。病例报告：我们报告一例35岁女性病例，其颊黏膜、舌背和牙龈出现多处病变，面部皮肤和手背有乳头状丘疹。这些病变被确定为错构瘤。包括血液计量学、血液化学和凝血指标在内的实验室检查结果均在正常范围内。她的病史显示有子宫肌瘤，这引发了对考登综合征的怀疑。基因咨询确诊了该疾病，发现存在杂合性PTEN缺失。结论：本病例说明了多学科方法在诊断考登综合征中的重要性，尤其是牙科专业人员在识别早期临床体征方面的作用。由于患者患恶性肿瘤的风险升高，通过基因检测进行早期诊断至关重要。医疗保健提供者必须对考登综合征等综合征保持警惕，特别是在有相关家族病史的患者中，以确保及时干预和全面管理。
