TY - JOUR
T1 - Beyond the Surface
T2 - A Narrative Review Examining the Systemic Impacts of Recessive Dystrophic Epidermolysis Bullosa
AU - Popp, Courtney
AU - Miller, William
AU - Eide, Cindy
AU - Tolar, Jakub
AU - McGrath, John A.
AU - Ebens, Christen L.
N1 - Publisher Copyright:
© 2024 The Authors
PY - 2024/9
Y1 - 2024/9
N2 - 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.
AB - 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.
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U2 - 10.1016/j.jid.2024.03.008
DO - 10.1016/j.jid.2024.03.008
M3 - Review article
AN - SCOPUS:85189968186
SN - 0022-202X
VL - 144
SP - 1943
EP - 1953
JO - Journal of Investigative Dermatology
JF - Journal of Investigative Dermatology
IS - 9
ER -