Epidermolysis bullosa

In the latest classification of EB published in early 2020 (Has et al., 2020), a clear distinction was made between the 4 classical types of EB (simplex, junctional, dystrophic, and Kindler) and disorders similar to EB. In the last group, several genes previously categorised as causing EB simplex were reclassified.

The expert committee divided the disorders similar to EB into 4 groups:

1. Skin Desquamation Disorders
2. Erosive Conditions
3. Hyperkeratotic Disorders with Skin Fragility
4. Connective Tissue Disorders with Skin Fragility

These disorders are similar to EB due to their manifestation of identical skin barrier defects, and the underlying mechanisms leading to the diseases are almost identical. Experts advocate for the inclusion of genes linked to these disorders within the genetic diagnostic panel for EB (using massive sequencing or NGS).