Clinical findings and genetics of the different forms of EB

The clinical differentiation of different forms of EB at birth, or during the first few years of life, is often very difficult. Later, the secondary symptoms of EB are important. Scarring, the involvement of mucous membranes, alopecia, tooth and nail abnormalities, the general health of the patient and the progression of the disorder, all provide important information which may contribute to the correct diagnosis.
The skin layer at which blistering occurs cannot be recognised.

Forms of EB

• Epidermolysis bullosa simplex, EBS
• Junctional epidermolysis bullosa, JEB
• Dystrophic epidermolysis bullosa, DEB
• Kindler Syndrome, KS