Epidermolysis Bullosa Progressiva (EBP) is a rare inherited genetic disorder that affects the skin, causing it to be extremely fragile and prone to blistering and tearing in response to even the slightest friction or trauma. EBP is considered a subtype of Epidermolysis Bullosa (EB), which is a broader term encompassing a group of inherited skin disorders characterized by similar symptoms.
In EBP, the skin layers, namely the epidermis and the dermis, do not properly adhere to each other. This leads to the separation of these layers under minimal mechanical stress, resulting in the formation of painful blisters, erosions, and chronic wounds. These blisters and erosions can occur on both the skin and mucous membranes, such as the mouth, throat, and internal organs. Additionally, EBP can also affect the nails and sometimes lead to deformities.
EBP is caused by mutations in specific genes that are responsible for the production of critical proteins that help anchor the layers of the skin together. Mutations in these genes result in the production of faulty or insufficient amounts of these proteins, leading to the fragile nature of the skin.
The severity of EBP can vary widely, ranging from mild cases with intermittent blistering to severe cases with extensive blistering and chronic wounds. As the condition is incurable, treatment mainly focuses on managing symptoms, preventing infections, and providing wound care. A multidisciplinary approach involving dermatologists, wound care specialists, nutritionists, and physiotherapists is usually necessary to adequately address the multifaceted challenges presented by EBP.
