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

Front Endocrinol (Lausanne). 2024 Jul 26:15:1418254. doi: 10.3389/fendo.2024.1418254. eCollection 2024.

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.

Keywords: Group A; case; erythropoietic protoporphyria; protoporphyrin; xeroderma pigmentosum.

Publication types

  • Case Reports

MeSH terms

  • China
  • East Asian People
  • Female
  • Ferrochelatase* / genetics
  • Frameshift Mutation
  • Humans
  • Male
  • Mutation
  • Protoporphyria, Erythropoietic* / complications
  • Protoporphyria, Erythropoietic* / genetics
  • Xeroderma Pigmentosum Group A Protein / genetics
  • Xeroderma Pigmentosum* / complications
  • Xeroderma Pigmentosum* / genetics

Substances

  • Ferrochelatase
  • FECH protein, human
  • Xeroderma Pigmentosum Group A Protein
  • XPA protein, human

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work was supported by the Hunan Provincial Health Commission high-level talents major scientific research project (20230465). This work was supported by the Hunan Provincial Health Commission highlevel talents major scientific research project (20230465), Hunan High-level Health Talents “225” Project ([2019]196) andHunan Province “14th Five-Year” Chinese medicine leading talent project ([2022]4).