Elephantiasis neuromatosa (EN) is a rare and extreme form of plexiform neurofibroma in patients with neurofibromatosis type 1 (NF1). EN is often associated with significant morbidity and remains difficult to treat. We present a case of an 11-year-old female with NF1 whose thoracolumbar plexiform neurofibroma and lower extremity EN exhibited clinical improvement from treatment with selumetinib, a selective MEK inhibitor.
Keywords: NF1; elephantiasis neuromatosa; neurofibromatosis; plexiform neurofibroma; selumetinib.
© 2022 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC.