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=15

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=<p>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&gt;C, in the proband’s intron3 of FECH.</p>