Treatment of Dysphagia in Patients With Dystrophic Epidermolysis Bullosa With Budesonide: a Retrospective Bicentric Study Nice - Paris St Louis / Necker (EBUDE Study)

Budesonide is a non-halogenated glucocorticoid that has an anti-inflammatory effect by binding to glucocorticoid receptors. In the treatment of eosinophilic esophagitis, whether as Jorveza or as a compounded formulation, it inhibits the antigen-induced secretion of various cytokines and pro-inflammatory molecules such as thymic stromal lymphopoietin, interleukin-13, and eotaxin-3 in the esophageal epithelium (1). This action leads to a significant reduction in inflammatory eosinophil infiltrates in the esophagus.

Dystrophic epidermolysis bullosa (DEB) is a rare genetic disease that causes fragile skin and mucous membranes, leading to blisters and wounds after trauma. Healing is abnormal and often associated with scarring and contractures.

The literature only reports two pediatric studies, with a total of eight DEB patients treated with a compounded formulation (CF) budesonide-based. These studies have shown good tolerance and satisfactory effectiveness on dysphagia (2, 3). To date, there is no data on the use of Jorveza in orally disintegrating tablets in adults with EBD, even though it is recommended for this indication in official guidelines (4). Our goal is to evaluate, within a cohort followed at the MAGEC reference center, the usefulness of budesonide in PM/orally disintegrating tablets, in patients of all ages with EBD.

Inclusion criteria

Patients of both sexes, of any age, with EBD in dominant or recessive form, treated for at least one month with budesonide for dysphagia resistant to usual treatments.

A description of the clinical form must be available in the file. The patient must assess the benefit of treatment at 1 and/or 3 months of Budesonide.

Patients must be affiliated with social security. For adults, consent of non-opposition is required, and for minors, non-opposition from one of the parents or the person holding parental authority must be collected.

Exclusion criteria

No precise clinical or biological diagnosis. Treatment with Budesonide < 1 month. No evaluation criteria in the file / Objection to the use of data (withdrawal of non-opposition)