COWDEN DISEASE

Course overview

COWDEN DISEASE, ALSO KNOWN AS COWDEN SYNDROME OR MULTIPLE HAMARTOMA SYNDROME, IS AN UNCOMMON AUTOSOMAL DOMINANT GENODERMATOSIS AND IS A MEMBER OF THE SPECTRUM OF DISORDERS INVOLVING MUTATIONS IN THE PHOSPHATASE AND TENSIN HOMOLOG GENE. COWDEN SYNDROME REPRESENTS THE MOST COMMON PHENOTYPE ASSOCIATED WITH THIS SPECTRUM AND IT IS CLASSICALLY IS CHARACTERIZED BY MULTIPLE BENIGN HAMARTOMAS THAT CAN OCCUR IN ANY ORGAN. PATIENTS WITH COWDEN SYNDROME CHARACTERISTICALLY DEVELOP MUCOCUTANEOUS LESIONS AND MACROCEPHALY. THE MAJORITY OF PATIENTS WITH COWDEN SYNDROME DEVELOP A MALIGNANT NEOPLASM OF THE THYROID, ENDOMETRIUM, OR BREAST. THIS ACTIVITY DESCRIBES THE PATHOPHYSIOLOGY, EVALUATION, AND MANAGEMENT OF COWDEN SYNDROME AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN THE CARE OF AFFECTED PATIENTS.