Epidermolysis Bullosa Recessive Dystrophic, inversa - Key Clinical Features

(1) Onset at birth in a generalized fashion.

(2) During early childhood, blistering localizes to intertriginous skin sites, the neck and the lumbosacral area.

(3) Nail dystrophy is present, but variable among patients.

(4) Esophageal strictures lead to impairment of nutrient intake.

(5) Vaginal strictures lead to impairment of normal sexual function.

(6) SCCs may develop, but with a much lower cumulative risk compared to RDEB-sev gen and RDEB-O.