Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study

Mei-Jan Chen, Peng Li, Kevin P. Boyd, Amy Theos, David T. Redden and Bruce Korf

OrphanetpJournal of Rare Diseases 2018 13:31

Abstract Published on 7 February 2018


Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by a predisposition to develop multiple benign tumors. A major feature of NF1 is the development of localized cutaneous neurofibromas. Cutaneous neurofibromas manifest in > 99% of adults with NF1 and are responsible for major negative effects on quality of life. Previous reports have correlated increased burden of cutaneous neurofibromas with age and pregnancy, but longitudinal data are not available to establish a quantitative natural history of these lesions. The purpose of this study is to conduct a prospective natural history study of 22 adults with NF1 over an 8-year period to quantify cutaneous neurofibroma number and size.