Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient.
Front Endocrinol (Lausanne)
; 15: 1418254, 2024.
Article
de 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.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Xeroderma pigmentosum
/
Protoporphyrie érythropoïétique
/
Ferrochelatase
Limites:
Female
/
Humans
/
Male
Pays/Région comme sujet:
Asia
Langue:
En
Journal:
Front Endocrinol (Lausanne)
Année:
2024
Type de document:
Article
Pays d'affiliation:
Chine
Pays de publication:
Suisse