Beyond the Surface: A Narrative Review Examining the Systemic Impacts of Recessive Dystrophic Epidermolysis Bullosa

Courtney Popp; William Miller; Cindy Eide; Jakub Tolar; John A McGrath; Christen L Ebens

doi:10.1016/j.jid.2024.03.008

Beyond the Surface: A Narrative Review Examining the Systemic Impacts of Recessive Dystrophic Epidermolysis Bullosa

J Invest Dermatol. 2024 Apr 12:S0022-202X(24)00198-2. doi: 10.1016/j.jid.2024.03.008. Online ahead of print.

Authors

Courtney Popp¹, William Miller¹, Cindy Eide¹, Jakub Tolar², John A McGrath³, Christen L Ebens⁴

Affiliations

¹ Division of Blood and Marrow Transplant & Cellular Therapy, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.
² Division of Blood and Marrow Transplant & Cellular Therapy, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA; MHealth Fairview Masonic Children's Hospital, Minneapolis, Minnesota, USA.
³ St. John's Institute of Dermatology, Guy's Hospital, School of Basic & Medical Biosciences, King's College London, London, United Kingdom.
⁴ Division of Blood and Marrow Transplant & Cellular Therapy, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA; MHealth Fairview Masonic Children's Hospital, Minneapolis, Minnesota, USA. Electronic address: ebens012@umn.edu.

PMID: 38613531
DOI: 10.1016/j.jid.2024.03.008

Abstract

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic disease resulting from inadequate type VII collagen (C7). Although recurrent skin blisters and wounds are the most apparent disease features, the impact of C7 loss is not confined to the skin and mucous membranes. RDEB is a systemic disease marred by chronic inflammation, fibrotic changes, pain, itch, and anemia, significantly impacting QOL and survival. In this narrative review, we summarize these systemic features of RDEB and promising research avenues to address them.

Keywords: Anemia; Fibrosis; Inflammation; Itch; Pain.

Publication types

Review