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Auto-antibodies in patients with epidermolysis bullosa and revertant mosaicism

1. To determine if auto-antibodies against the re-expressed protein exist in the peripheral circulation in patients with EB and revertant mosaicism and compare this incidence to the group of patients with EB and without revertant mosaicism. 2. To…

Suction blisters: induction time and level of blister formation in the skin

With this study we want to validate the negative pressure instrument which can make suction blisters, so in the future it can be used for other purposes. It can be helpfull to study the effects of medication or other treatments on blister formation…

Capillary malformations, from genotype to phenotype: a focus on endothelial function

We aim to provide preliminary information on the presence of GNAQ, GNA11, RASA1 or PIK3CA gene mutations, assess the endothelial cell properties and compare it to the phenotypic characteristics of the PWSs of affected patients. This will lead to a…