Research Information System
MEDICAL ONCOLOGY, vol.29, no.2, pp.1365-1368, 2012 (SCI-Expanded)
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.