Natural History Study of Cutaneous Neurofibromas in People With NF1

Cutaneous neurofibromas (cNFs) are the most common tumors in people with neurofibromatosis type 1 (NF1). Despite their benign histology, they can significantly impact patients' quality of life (QoL). In this project, the natural history of cNFs will be prospectively and systematically studied. To accomplish this, the reproducibility and efficiency of using 3D whole-body photography was evaluated in a small cohort of patients. The study is enrolling patients of all ages with cNFs into groups by epochs of life to characterize the baseline tumor burden and the change in number and morphology of cNFs over five years. In addition, the study will perform next generation sequencing to describe the genetic variations in the NF1 gene and evaluate potential relations between genotype and phenotype. Lastly, the study will validate clinician- and patient-reported severity scales of cNFs developed for this patient population.