Cowden Disease: A Review

摘要

PTEN hamartoma tumor syndrome (PTHS) includes diseases with germline pathogenic variants in the PTEN gene. Cowden syndrome is included in this syndrome. PTEN (phosphatase and tensin homolog) is a tumor suppressor gene located on chromosome 10q22-23; nearly 60%-90% of pathogenic variants are inherited. Cowden syndrome is a rare autosomic dominant condition, affecting approximately 1/200,000 people worldwide. Patients present benign and, malignant neoplasms in multiple organs, mostly breast and thyroid. The skin is the organ affected most consistently by Cowden disease. It is an autosomal dominant condition, characterized clinically by the presence of innumerable verrucous lesions on the skin. Interpretations of histopathologic findings in the cutaneous and mucosal lesions continue to be a matter of debate.