Genetic Mutations & Response to Trametinib in a 7-Year-Old Neurocutaneous Melanosis Patient
ABSTRACT Background: Neurocutaneous melanosis is a devastating disease characterized by multiple congenital melanocytic nevi and melanocytic proliferation within the leptomeninges. Because optimal medical therapy at present is insufficient, further investigations into genetic pathways might offer new therapeutic options. Observation: Herein, we present a case of a child with neurocutaneous melanosis syndrome harboring two novel … Read more