Unraveling phenotypes in Brazilian patients with cutaneous porphyrias: the impact of next generation sequencing with a targeted gene panel

Background: Cutaneous porphyrias are a heterogeneous group of both acquired and genetic disorders whose diagnosis rely on clinical features specific biochemical testing. In Brazil, testing for acute become more accessible in the last years, nevertheless same was not seen cutaneous porphyrias, so most key laboratory performed only abroad, increasing costs analysis. this context, Next Generation Sequencing (NGS) became an important tool investigation patients with porphyrias.