Frontiers in Endocrinology (Jul 2024)
Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient
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.
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