A Case Report of Cowden Disease with a Germline Mutation in PTEN Gene Diagnosed following Fecal Occult Blood Testing

Abstract

Gastrointestinal polyposis was diagnosed in a 39-year-old man following fecal occult blood examination. He was suspected of having Cowden disease with facial trichilemmomas, a cobblestone pattern of the oral mucosa and gingiva, and thyroid tumors. On genetic analysis of the PTEN gene, a missense mutation at codon 170 was found. Cowden disease is characterized by hamartomas and germline PTEN mutation. Early medical examination and treatment of Cowden disease are of great importance because malignant tumors may develop.