{Reference Type}: Case Reports {Title}: Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient. {Author}: Wu SH;Xiao T;Zhao D;Zeng YH;Zhu MF; {Journal}: Front Endocrinol (Lausanne) {Volume}: 15 {Issue}: 0 {Year}: 2024 {Factor}: 6.055 {DOI}: 10.3389/fendo.2024.1418254 {Abstract}: Xeroderma pigmentosum is a rare autosomal recessive genodermatoses characterized by a deficiency in nucleotide excision repair. Erythropoietic protoporphyria is a rare inherited metabolic disease caused by the perturbation of heme. Xeroderma pigmentosum-erythropoietic protoporphyria is exceedingly rare. Hereby, we firstly report a young Chinese patient of xeroderma pigmentosum Group A with erythropoietic protoporphyria carrying an XPA Met214AsnfsTer7 frameshift mutation and a homozygous splicing mutation, c.315-48T>C, in the proband's intron3 of FECH.