Department of Internal Medicine, Hacettepe University Faculty of Medicine, 06100 Sihhiye, Ankara, Turkey.
Med Oncol. 2012 Jun;29(2):1365-8. doi: 10.1007/s12032-011-9896-x. Epub 2011 Mar 11.
Cowden syndrome (CS) or multiple hamartoma syndrome is a rare genetic disorder related to increased cellular proliferation of ectodermal, mesodermal, and endodermal tissues. It is characterized by multiple hamartomas and malignant neoplasms. Cancers of the breast, thyroid, endometrium, and skin are the most prevalent ones. Although close surveillance for cancer is required, many cases are undiagnosed or diagnosis comes at a late stage, partly due to the variable phenotype of the disease. Detection of multiple skin lesions of different characteristic in a patient with other local and systemic pathologies prompts further evaluation for CS. A case of CS, whose diagnosis is based upon skin lesions, alimentary tract polyposis, mental dullness, and history of spinal arteriovenous malformations, is discussed in this report.
考登综合征(CS)或多发性错构瘤综合征是一种罕见的遗传性疾病,与外胚层、中胚层和内胚层组织的细胞增殖增加有关。其特征为多发性错构瘤和恶性肿瘤。最常见的癌症有乳腺癌、甲状腺癌、子宫内膜癌和皮肤癌。尽管需要密切监测癌症,但许多病例未被诊断或诊断较晚,部分原因是该病的表型多变。当患者存在其他局部和全身病理时,出现多种不同特征的皮肤病变提示进一步评估 CS。本报告讨论了一例基于皮肤病变、消化道息肉、智力迟钝和脊髓动静脉畸形病史诊断的 CS 病例。