Clinical impact of selumetinib on pediatric elephantiasis neuromatosa

Abstract

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.

Limb Hypertrophy—An Uncommon Presentation Yet a Common Link among Neurocutaneous Syndromes: A Series of Three Cases

“…15 Blegen et al reported the beneficial effect of selumetinib in an 11-year-old girl with elephantiasis neuromatosa. 16 With regard to TSC and SWS, drugs primarily targeting the mTOR pathway have been explored. A review by Franz and Krueger concluded that mTOR inhibition by drugs including sirolimus and everolimus could serve as a disease-modifying therapy in TSC.…”