LB1730 Concordance in the secretome of recessive dystrophic epidermolysis bullosa and cellular senescence reveals COL7A1 dependent perturbations

Recessive dystrophic epidermolysis bullosa (RDEB) is a recessive congenital skin disease caused by biallelic pathogenic variants in the gene, COL7A1, which encodes type VII collagen (Col7). Deficiencies in Col7 cause a dysfunctional dermal-epidermal junction resulting in a clinical presentation that includes severe generalized blistering. Patients living with RDEB have a 90.1% risk of developing aggressive squamous cell carcinoma (SCC) with high metastatic potential at a considerably younger age (by age 55) relative to the general population, which suggests a premature aging phenotype.

Source: Journal of Investigative Dermatology - August 21, 2023 Category: Dermatology Authors: S.A. Koutsoukos, M. Pavlova, P.S. McGrath, S. McGarvey, J. Castillo Flores, A. Bruckner, D.R. Roop, I. Kogut, G. Bilousova Source Type: research