Neurofibromatosis type 1 - an update

Abstract

Neurofibromatosis type 1 (NF1) is one of the most common genetic conditions. It can be inherited in an autosomal dominant manner, but almost half of cases occur de novo. NF1 is associated with café-au-lait macules, freckles in the inguinal and axillary region, neurofibromas, Lisch nodules of the iris or choroidal abnormalities, optic pathway gliomas, and distinctive bone anomalies. It has complete penetrance but highly variable disease manifestations. Certain features including café-au-lait macules, bony abnormalities, and optic pathway gliomas emerge by early childhood, but others appear later in life. A cure for NF1 has not been found, however emerging treatments have involved modulation of the RAS/MAPK signaling pathway.