Recessive Dystrophic Epidermolysis Bullosa
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare genetic skin disorder caused by mutations in the COL7A1 gene. This condition leads to fragile skin that blisters easily, often resulting in painful wounds and scarring. Individuals with RDEB may also experience complications such as infections and difficulty swallowing.
RDEB is inherited in an autosomal recessive manner, meaning that a person must receive two copies of the mutated gene, one from each parent, to develop the condition. Management focuses on wound care, pain relief, and preventing infections to improve the quality of life for those affected.