Epidermolysis Bullosa synonyms

Epidermolysis Bullosa (EB) is a rare genetic disorder characterized by extremely fragile skin that is prone to blistering and tearing even with minor friction or trauma. This condition is often referred to as "butterfly skin" due to the delicate nature of the affected skin.

Epidermolysis Bullosa is also known by several other names, including:

• Dystrophic Epidermolysis Bullosa (DEB): This form of EB is caused by mutations in the COL7A1 gene, leading to a deficiency of type VII collagen, a protein essential for anchoring the layers of skin together.


• Junctional Epidermolysis Bullosa (JEB): JEB is caused by mutations in genes encoding proteins involved in the formation of the anchoring structures within the skin.


• Herlitz JEB: This is a severe form of JEB characterized by extensive blistering and erosions, often leading to life-threatening complications.


• Non-Herlitz JEB: Non-Herlitz JEB is a milder form of JEB with less severe symptoms and a better prognosis.


• Epidermolysis Bullosa Simplex (EBS): EBS is caused by mutations in genes encoding keratins, which are structural proteins that provide strength to the skin cells.


• Koebner Recessive Dystrophic EB: This form of EB is characterized by blistering and scarring, often affecting the hands, feet, and nails.

These different names reflect the various subtypes and genetic mutations associated with Epidermolysis Bullosa. Each subtype has its own unique clinical features and severity, but all share the common characteristic of fragile skin that is prone to blistering.

Living with Epidermolysis Bullosa can be challenging, as even simple daily activities can cause painful blisters and wounds. Treatment focuses on managing symptoms, preventing infection, and promoting wound healing. A multidisciplinary approach involving dermatologists, wound care specialists, genetic counselors, and other healthcare professionals is often necessary to provide comprehensive care for individuals with EB.