A case of junctional epidermolysis bullosa intermediate with collagen XVII deficiency treated with dupilumab

Abstract

Inherited epidermolysis bullosa is a heterogeneous group of hereditary skin diseases characterized by skin (mucosa) fragility, which leads to blistering. Junctional epidermolysis bullosa is associated with mutations in genes expressing proteins of the dermo-epidermal junction. Dupilumab, an antibody that directly targets interleukin (IL)-4 receptor alpha, may be an effective treatment for dystrophic epidermolysis bullosa. We describe a case of junctional epidermolysis bullosa that improved with dupilumab.

Keywords:

• Junctional epidermolysis bullosa₁
• dupilumab₂
• treatment₃
• COL17A1₄
• itch₅
• pruritus₆

Acknowledgments

We thank the patient for granting permission to publish this information.

Author contributions

L Zhang, S Wang, Q Chen, and L Xiang designed the study and performed the acquisition, analysis, and interpretation of data. L Zhang and S Wang wrote the manuscript. L Zhang, S Wang, Q Chen, and L Xiang performed critical revision of the manuscript for important intellectual content. All authors contributed to the article and approved the submitted version.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Data availability statement

The data that support the findings are available from the corresponding author, upon reasonable request.

Additional information

Funding

This work was partly supported by the grants from Shanghai Sailing Program (No. 20YF1403700) and National Natural Science Foundation of China (82003352, 82003357, 82173444).