Plexiform Neurofibromas in Neurofibromatosis Type 1- Two Families Case Report

Plexiform neurofibromas (PNFs) are distinct lesions in neurofibromatosis type 1 (NF1) patients and may arise anywhere along a nerve. PNFs occur in approximately 50% of individuals with NF1 and they have a capacity to transform into malignant peripheral nerve sheath tumors (MPNSTs) in 8%-13% of NF1 patients. In this study, we report four cases of NF1 with a PFN manifestation and the mutational analysis of the NF1 gene. The patients were from two families from Erode district, Tamil Nadu, South India. All the cases fulfilled the National Institutes of Health (NIH) diagnostic criteria of NF1, and had the major features of NF1 such as café-au-lait spots (CALS). cutaneous neurofibromas, plexiform neurofibromas and axillary freckling. Short stature is the minor NF1 feature that occurred in all the four cases.