[Pseudoxanthoma elasticum-like disease with deficiency of vitamin K-dependent clotting factors and cutis laxa features].
Fiche publication
Date publication
avril 2016
Journal
Annales de dermatologie et de venereologie
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CRIBIER Bernard
Tous les auteurs :
Gusdorf L, Mitcov M, Maradeix S, Cunat S, Martin L, Cribier B
Lien Pubmed
Résumé
Pseudoxanthoma elasticum (PXE)-like syndrome is characterized by the association of PXE and cutis laxa (CL) features with a deficiency of vitamin K-dependent clotting factors. It was first described in 1971 and was identified as a distinct genetic entity in 2007 with analysis of the GGCX (γ-glutamyl carboxylase) gene, which is involved in congenital deficiency in vitamin K-dependent clotting factors. Here we report a new case of this extremely rare syndrome.
Mots clés
Biopsy, Carbon-Carbon Ligases, deficiency, Coagulation Protein Disorders, diagnosis, Cutis Laxa, diagnosis, Female, Heterozygote, Humans, Mutation, Missense, Protein Processing, Post-Translational, Pseudoxanthoma Elasticum, diagnosis, Skin, pathology, Weight Loss, Young Adult
Référence
Ann Dermatol Venereol. 2016 Apr;143(4):279-83