The diagnosis and management of neurofibromatosis

BACKGROUND- Neurofibromatosis 1 (NF1) is a common autosomal dominant disorder. Affected individuals develop pigmentary abnormalities, benign and malignant tumors, and abnormalities of the vascular, skeletal, and nervous systems. Over the past 10 years, significant progress has been made in our clinical and basic science understanding of NF1. REVIEW SUMMARY- The diagnosis of NF1 follows clear diagnostic criteria. The management and treatment of NF1 is complex and often requires a multidisciplinary approach. The clinical features of NF1 are discussed in detail and recommendations for the care and treatment of individuals affected with NF1 are addressed. Finally, the issue of genetic testing for individuals at risk of NF1 is discussed. CONCLUSIONS- This review should provide the practicing neurologist with a basic understanding of the clinical issues that surround the management and treatment of individuals affected with NF1. Ideally, individuals suspected of having NF1 based on the criteria discussed in this review should be referred to clinical programs subspecializing in the care of individuals with NF1.