Then, he was evaluated at the Rheumatology Service where EPP was diagnosed on the basis of high erythrocyte protoporphyrins (5.8 μmol/l) and two heterozygous variants of the FECH gene (c.757_761delAGAAG, c.315-48T > C). This evidence concerns the gene FECH and autosomal erythropoietic protoporphyria.