New directions in targeted therapy for genetic skin disorders: a systematic scoping review protocol

Description

The advent of molecular innovations in the 21st century enabled greater understanding of the human genome and elucidated the pathophysiology underlying many genodermatoses. These innovations are leading to a rapidly growing therapeutic armamentarium for patients with previously untreatable genetic skin diseases targeting the gene or downstream pathways that impact the phenotype. These advanced molecular technologies allow for reversal of underlying genetic defects or restoration of functional products via gene, protein, and cell therapy approaches. Dermatologists should familiarize themselves with these new and emerging therapeutic options to adequately care for patients affected by genodermatoses in this era of rapidly advancing treatments and molecular interventions. Our focus for the current review is to present a comprehensive update on new and emerging targeted treatments for genodermatoses with an emphasis on the pharmacologic and molecular mechanisms of therapeutic classes. We will discuss the indications for therapeutic interventions and new technological advancements in treatment across the spectrum of genodermatoses.