dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa (DEB) is a rare genetic skin disorder characterized by fragile skin that blisters easily. This condition is caused by mutations in the COL7A1 gene, which affects the production of type VII collagen, a protein essential for skin integrity. Individuals with DEB often experience painful blisters and wounds, particularly in areas subjected to friction or trauma.
There are two main forms of DEB: dominant and recessive. The dominant form typically has milder symptoms, while the recessive form can lead to more severe complications, including scarring and an increased risk of squamous cell carcinoma. Management focuses on wound care and preventing infections to improve quality of life.