Epidermolysis Bullosa (EB)
Epidermolysis Bullosa (EB) is a group of rare inherited disorders causing the skin and mucous membranes to be very fragile and blister easily from minor friction or trauma.
🔍 Causes
- Genetic mutations affecting proteins that hold skin layers together
- Inherited in an autosomal dominant or recessive pattern, depending on the type
⚠️ Types of EB
- EB Simplex: Blisters form mainly in the outer skin layer, usually less severe.
- Junctional EB: Blisters form in the layer between the epidermis and dermis; often more severe.
- Dystrophic EB: Scarring occurs due to deeper skin damage.
- Kindler Syndrome: Mixed features with skin fragility and photosensitivity.
⚠️ Symptoms
- Fragile skin that blisters easily after minor injury
- Blisters on hands, feet, and other pressure points
- Scarring and thickened skin in severe cases
- Nail abnormalities, dental problems, and sometimes internal complications (esophageal strictures, anemia)
🧪 Diagnosis
- Clinical evaluation
- Skin biopsy with immunofluorescence mapping
- Genetic testing for confirmation
🛠️ Treatment
- No cure; management focuses on wound care and preventing infections
- Gentle handling and protective bandaging
- Pain management
- Nutritional support to promote healing
- Specialized multidisciplinary care for complications