%0 Case Reports
%T Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient.
%A Wu SH
%A Xiao T
%A Zhao D
%A Zeng YH
%A Zhu MF
%J Front Endocrinol (Lausanne)
%V 15
%N 0
%D 2024
%M 39129919
%F 6.055
%R 10.3389/fendo.2024.1418254
%X 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.