Overview
Introduction: Two Disorders, Two Clinical Patterns
NF1 and what was formerly called NF2 are inherited tumour predisposition disorders, but they do not produce the same bedside picture.
NF1 and what was formerly called NF2 are inherited tumour-predisposition disorders, but they do not produce the same bedside picture. NF1 usually unfolds through café-au-lait macules, intertriginous freckling, neurofibromas, optic pathway disease, skeletal abnormalities, learning difficulties and vascular complications. The current name for the former NF2 is NF2-related schwannomatosis (NF2-SWN); its characteristic threat is bilateral vestibular schwannoma with progressive hearing and balance dysfunction, often accompanied by meningiomas, other schwannomas or ependymomas. The nurse’s first diagnostic move is pattern recognition, not simply counting skin lesions. Age, distribution, tumour behaviour, vision, hearing, neurological function and blood pressure determine which disorder is most likely and how urgently the patient needs assessment. Both conditions may arise de novo, so the absence of a family history does not exclude them.