Specialist information for medical doctors, nursing staff, professional staff and researchers

Epidermolysis bullosa (EB)

Definition:

• Group of genetic skin disorders with mutations in genes that code for structural proteins of the dermo-epidermal basement membrane zone.
• To date defects in 13 genes are known for different forms of EB.
• The incidence of all forms of Epidermolysis bullosa is based only on estimates; the exact prevalence is not known. According to estimates, it occurs in 1 in 50.000 to 1 in 100.000 births.
• Minimal trauma leads to blistering of the skin and the mucous membranes near the skin.
• Classification into main forms, according to the level of blister formation in the skin:

1. EB simplex (EBS) with blister formation in the basal keratinocyte layer.
2. Junctional EB (JEB) with blister formation along the basement membrane.
3. Dystrophic EB (DEB) with blister formation underneath the basement membrane.
4. Kindler Syndrome (KS)

The main forms are subdivided into subtypes with different inheritance patterns,
common sites of occurrence and different accompanying symptoms.