NEUROFIBROMATOSIS TYPE 1

Course overview

NEUROFIBROMATOSIS-1 (NF-1), OR VON RECKLINGHAUSEN DISEASE, IS ONE OF THE INHERITABLE NEUROCUTANEOUS DISORDERS MANIFESTED BY DEVELOPMENTAL CHANGES IN THE NERVOUS SYSTEM, BONES, AND SKIN. IT IS AN AUTOSOMAL DOMINANT DISORDER. ADDITIONALLY, IT IS THE MOST COMMON AMONGST ALL THE HAMARTOMA NEOPLASTIC SYNDROMES, INCLUDING TUBEROUS SCLEROSIS, GARDNER, AND COWDEN SYNDROMES. OTHER TYPES OF NEUROFIBROMATOSIS ARE NEUROFIBROMATOSIS TYPE 2 (NF2) AND SCHWANNOMATOSIS. CAFE-AU-LAIT MACULES AND NEUROFIBROMAS ARE THE DISTINGUISHING FEATURES OF NF1. NF2 CAN HAVE SIMILAR CUTANEOUS MANIFESTATIONS AS THAT OF NF1. BUT THE HALLMARK MANIFESTATIONS OF NF2 INCLUDE SCHWANNOMA, MENINGIOMA, AND EPENDYMOMA. THIS ACTIVITY DESCRIBES THE CLINICAL PRESENTATION AND MANAGEMENT OF NF-1 AND HIGHLIGHTS THE INTERPROFESSIONAL TEAM'S ROLE IN MANAGING PATIENTS WITH THIS DISEASE.