When he was twelve, he was evaluated at the Rheumatology Service for the first time, where EPP was diagnosed after the finding of high erythrocyte protoporphyrin (5.5 μmol/l) and either two splicing mutations (c.599-3 C > T and c.498 + 1 G > T) or a third variation (c.315-48T > C) on the FECH gene. This evidence concerns the gene FECH and autosomal erythropoietic protoporphyria.