Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient.
Front Endocrinol (Lausanne)
; 15: 1418254, 2024.
Article
in En
| MEDLINE
| ID: mdl-39129919
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Xeroderma Pigmentosum
/
Protoporphyria, Erythropoietic
/
Ferrochelatase
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Front Endocrinol (Lausanne)
Year:
2024
Document type:
Article
Affiliation country:
China