Recessive dystrophic epidermolysis bullosa (RDEB) is a cutaneous genetic disease, which characterized by the loss of functional type VII collagen. The epidermis becomes extremely fragile without collagen, and patients suffer from repetitive blistering scar formation. RDEB caused mutations in COL7A1 gene (coding collagen), most have two different on each gene. Interestingly, it known that part s...

Objetivo: describir las características epidemiológicas, sociodemográficas, clínicas y métodos diagnósticos de pacientes con diagnóstico EB, vinculados a la fundación DEBRA Colombia. Materiales Métodos: Estudio observacional, descriptivo retrospectivo corte transversal donde se caracterizaron los valorados en el periodo comprendido 2009-2020. Resultados: Se registraron 104 total, una proporción...

Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable rare skin fragility disorder characterized by deficient dermo-epidermal adhesion due to mutations in COL7A1 gene. Modifying genes and epigenetic factors, mainly associated with inflammation, contribute clinical severity, are key the design of novel effective therapies. The goal this omics study expand knowledge molecular mechanis...