XERODERMA PIGMENTOSUM

Course overview

XERODERMA PIGMENTOSUM IS A RARE AUTOSOMAL RECESSIVE GENODERMATOSIS THAT RESULTS DUE TO MUTATIONS IN NUCLEOTIDE EXCISION REPAIR. THE CONDITION IS CHARACTERIZED BY SEVERE PHOTOSENSITIVITY, SKIN PIGMENTARY CHANGES, MALIGNANT TUMOR DEVELOPMENT, AND OCCASIONALLY PROGRESSIVE NEUROLOGIC DEGENERATION. THIS ACTIVITY DESCRIBES THE EVALUATION AND MANAGEMENT OF XERODERMA PIGMENTOSUM AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN THE CARE OF PATIENTS WITH THIS CONDITION.