Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara

Introduction: Epidermolysis Bullosa Simplex-Dowling-Meara (DM-EBS) is a rare genodermatosis characterized by spontaneous or post traumatic large cutaneous blisters. No curative treatment is actually available. Some data suggest a role of inflammation in the occurrence of blisters. The aim of this study is to study the epidermis inflammatory mechanisms in DM-EBS. Material and methods: A first retrospective immunohistochemical study will be led on remainder skin biopsies of DM-EBS patients took for the diagnosis. A second clinical multicentric prospective study will be led on 8 patients older than 1 year with severe DM-EBS. After informed written consent, they will answer to a standardized questionnaire. In case of flare of the disease, the liquid and the top of the blisters will be took. Samples will be analyzed in the Pr Nicolas 851 INSERM unit. After centrifugation of the liquid blisters, the repartition of inflammatory cells will be evaluated by Fluorescence Activated Cell Sorting on the pellet. Markers of inflammation will be evaluated on the surnageant with Luminex® technical with a multiplex targeting cytokines and chemokines. An immuno-histochemic analysis in association with a quantitative PCR will be made on the top of the blisters. If unknown, genotypic study will be made. Perspectives: A better comprehension of physiopathological mechanisms in DM-EBS could offer new therapeutic ways.

Inclusion Criteria: male or female older than 1 year-old severe Dowling Meara epidermolysis bullosa (more than 2 blisters per day) systematic written informed consent child consent affiliated to french social security Exclusion Criteria: younger than one year-old no consent non affiliated to french social security participation to another clinical trial within 3 months ago intercurrent disease justifying the withdrawal of the study own patient decision to stop the study, withdrawal of informed consent