BLOOM SYNDROME

Course overview

BLOOM SYNDROME, ALSO CALLED BLOOM-TORRE-MACHACEK SYNDROME OR CONGENITAL TELANGIECTATIC ERYTHEMA, IS A RARE AUTOSOMAL RECESSIVE INHERITED DISORDER CHARACTERIZED BY GENOMIC INSTABILITY AND PREDISPOSITION TO THE DEVELOPMENT ALL TYPES OF CANCER. BLOOM SYNDROME IS DUE TO MUTATIONS IN THE BLM GENE. THIS ACTIVITY OUTLINES THE EVALUATION AND MANAGEMENT OF BLOOM SYNDROME AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN IMPROVING CARE FOR PATIENTS WITH THIS CONDITION.