Glavina Ana, Bradamante Mirna, Glavina Durdov Merica, Mravak-Stipetić Marinka
Professor Marinka Mravak-Stipetić, DMD, MSc, PhD, School of Dental Medicine University of Zagreb, University Dental Clinic University Hospital Center Zagreb, Department of Oral Medicine, Gundulićeva 5, 10000 Zagreb, Croatia;
Acta Dermatovenerol Croat. 2019 Dec;27(4):260-264.
Cowden syndrome (CS) is a rare autosomal dominant, hereditary, multiorgan disease with higher risk for malignancies (breast, thyroid, endometrium). Mucocutaneous lesions occur in 90% of cases and are characterized by facial trichilemmomas, oral mucosal papillomas, and benign acral keratoses. We present the case of a 39-year-old female patient with the chief complaint of "white spots" on the upper and lower attached gingiva accompanied with skin changes on the face, hands, and soles. The patient's family medical history revealed that her mother had an endometrial polyp and the sister had thyroid cancer. In the patient's medical personal history she reported follicular thyroid adenoma, thyroid abnormalities (i.e. lymphocytic thyroiditis), fibrocystic changes and juvenile breast papillomatosis, lipoma, multiple fibromas, and genitourinary tumors. Based on extensive family and personal medical history, physical examination and histopathological findings, diagnostic criteria were fulfilled for the diagnosis of Cowden syndrome.
考登综合征（CS）是一种罕见的常染色体显性遗传性多器官疾病，患恶性肿瘤（乳腺癌、甲状腺癌、子宫内膜癌）的风险较高。90%的病例会出现皮肤黏膜病变，其特征为面部毛发上皮瘤、口腔黏膜乳头状瘤和良性肢端角化病。我们报告了一例39岁女性患者，主诉上下附着龈出现“白斑”，同时伴有面部、手部和足底皮肤改变。患者的家族病史显示，她的母亲患有子宫内膜息肉，姐姐患有甲状腺癌。患者个人病史报告有滤泡性甲状腺腺瘤、甲状腺异常（如淋巴细胞性甲状腺炎）、纤维囊性改变和青少年乳腺乳头状瘤病、脂肪瘤、多发性纤维瘤以及泌尿生殖系统肿瘤。基于广泛的家族和个人病史、体格检查及组织病理学检查结果，符合考登综合征的诊断标准。
