Neurofibromatosis type 1: report of two contrasting cases

Abstract

We present two cases of neurofibromatosis type 1 (NF-1), one a 35 year old male who first recognised his problem at the age of fifteen years and at the time of assessment, satisfied the National Institute of Health (NIH) diagnostic criteria for NF-1 and had a nodular plexiform neurofibroma involving the left fifth dorsal nerve root and a diffuse plexiform neurofibroma involving the left lower limb. The second patient, a 45 year old female recognised her problem at the age of 39 years, did not quite satisfy the NIH diagnostic criteria for NF 1 and had diffuse plexiform neurofibroma involving both lower limbs and buttocks almost symmetrically, a finding which has not previously been described to the best of our knowledge. The scarcity of management options are briefly outlined