Dominant Dystrophic Epidermolysis Bullosa
Dominant Dystrophic Epidermolysis Bullosa (DDEB) is a genetic skin disorder characterized by fragile skin that blisters easily. It is caused by mutations in the COL7A1 gene, which is responsible for producing type VII collagen, an essential protein for skin integrity. Individuals with DDEB often experience blistering from minor trauma, leading to scarring and skin changes over time.
The condition is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene is needed for a person to be affected. While DDEB can vary in severity, management typically focuses on wound care and preventing infections to improve quality of life.