POIKILODERMA CONGENITALE

Course overview

CONGENITAL POIKILODERMA, ALSO KNOWN AS ROTHMUND-THOMSON SYNDROME (RTS), IS A RARE GENODERMATOSIS WITH AUTOSOMAL RECESSIVE INHERITANCE. IT IS CHARACTERIZED BY EARLY-ONSET FACIAL POIKILODERMA AND ASSOCIATED WITH CLINICAL FEATURES, INCLUDING SHORT STATURE, SPARSE SCALP HAIR, ABSENT OR SPARSE EYELASHES AND/OR EYEBROWS, JUVENILE CATARACTS, SKELETAL ABNORMALITIES, PREMATURE AGING, AND SUSCEPTIBILITY TO OSTEOSARCOMA. THERE ARE 2 TYPES OF CONGENITAL POIKILODERMA. TYPE 1 IS CHARACTERIZED BY A RAPIDLY-PROGRESSIVE, BILATERAL, JUVENILE CATARACTS, WHILE TYPE 2 IS CHARACTERIZED BY CONGENITAL BONE ABNORMALITIES AND AN INCREASED RISK OF OSTEOSARCOMA IN CHILDHOOD AND SQUAMOUS CELL CARCINOMA AT AN OLDER AGE. THIS ACTIVITY REVIEWS THE PRESENTATION, EVALUATION, AND MANAGEMENT OF CONGENITAL POIKILODERMA AND STRESSES THE ROLE OF AN INTERPROFESSIONAL TEAM APPROACH TO THE CARE OF AFFECTED PATIENTS.