[Pseudoxanthoma elasticum-like disease with deficiency of vitamin K-dependent clotting factors and cutis laxa features].

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

https://www.ncbi.nlm.nih.gov/pubmed/26944767

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