INCONTINENTIA PIGMENTI (BLOCH SULZBERGER SYNDROME)

Course overview

INCONTINENTIA PIGMENTI IS AN X-LINKED DOMINANT GENODERMATOSIS. THE DISEASE IS CAUSED BY A MUTATION OF THE IKBKG GENE. THIS RARE DISORDER PRESENTS IN THE FIRST FEW WEEKS OF LIFE. SKIN LESIONS ARE TYPICAL OF THIS DISEASE. THE EYE, TEETH, AND CENTRAL NERVOUS SYSTEM ARE ALSO INVOLVED. DUE TO MULTISYSTEMIC INVOLVEMENT, IT MUST BE PROMPTLY DIAGNOSED AND TREATED. GENETIC COUNSELING PLAYS AN IMPORTANT PART IN THE MANAGEMENT. THIS ACTIVITY REVIEWS THE EVALUATION AND DIAGNOSIS OF INCONTINENTIA PIGMENTI AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN EVALUATING AND TREATING PATIENTS WITH THIS CONDITION.