Epidermolysis Bullosa (EB) is a rare genetic disorder characterized by fragile skin that easily blisters and forms painful sores. It affects both children and adults worldwide. The prevalence of EB varies depending on the subtype, with the most severe forms being less common. Overall, EB is estimated to affect approximately 20 per million live births globally. Although it is a rare condition, the impact on individuals and families living with EB is significant, requiring specialized care and support.
Epidermolysis Bullosa (EB) is a rare genetic disorder characterized by extremely fragile skin that blisters and tears with minimal friction or trauma. It is estimated that EB affects approximately 1 in every 20,000 live births worldwide, making it a relatively rare condition.
There are several subtypes of EB, each with varying degrees of severity. The most severe form, known as EB simplex, accounts for about 70% of all cases. Other subtypes include junctional EB and dystrophic EB, which are less common but can be more severe.
EB is caused by mutations in genes responsible for producing proteins that help anchor the layers of skin together. These mutations result in weakened skin that is prone to blistering and tearing. The condition can range from mild, with blisters primarily affecting the hands and feet, to severe, with widespread blistering and complications affecting internal organs.
Living with EB can be challenging, as even simple activities like walking or eating can cause painful blisters. Treatment focuses on managing symptoms, preventing infection, and promoting wound healing. Ongoing research aims to develop more effective therapies and potential cures for this debilitating condition.