AUTHOR=Wu Shu-hui , Xiao Ting , Zhao Dan , Zeng Ying-hong , Zhu Ming-fang 

TITLE=Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient

JOURNAL=Frontiers in Endocrinology

VOLUME=Volume 15 - 2024

YEAR=2024

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1418254

DOI=10.3389/fendo.2024.1418254

ISSN=1664-2392

ABSTRACT=Xeroderma pigmentosum, is a rare autosomal recessive genodermatoses characterized by the 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 case of xeroderma pigmentosum Group A with erythropoietic protoporphyria carrying the XPA Met214AsnfsTer7 frameshift mutation and the homozygous splicing mutation, c.315-48T>C in the proband's intron3 of FECH.