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Eye Involvement and Management in Inherited Epidermolysis Bullosa

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Abstract

Inherited epidermolysis bullosa (EB) is a group of genetic rare diseases associated with skin fragility, which leads to the formation of blisters, erosions, and scars on the skin and mucous membranes. Epidermolysis bullosa includes four main types and some several clinical subtypes including EB simplex, junctional EB, dystrophic EB, and Kindler’s EB. Ocular involvement ranged from 51 to 68% in EB and can cause irreversible damages if not properly managed. Corneal erosions are the most common finding among series, including our cohort. We review here clinical and pathological features of ocular involvement in EB and the main keys for management, with a focus on recent innovative therapies.

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Authors and Affiliations

  1. Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, 149 Rue de Sèvres, 75015, Paris, France

    Yasmine Bachir, Alejandra Daruich, Couanon Marie, Matthieu P. Robert & Dominique Bremond-Gignac

  2. INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France

    Alejandra Daruich & Dominique Bremond-Gignac

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  1. Yasmine Bachir
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Correspondence to Dominique Bremond-Gignac.

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YB performed the literature search, the data analysis and drafted the manuscript, AD participates in the literature search and critically revised the manuscript, MC participates on data collection, MPR participates on data collection, DBG had the idea for the article and critically revised the manuscript.

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Bachir, Y., Daruich, A., Marie, C. et al. Eye Involvement and Management in Inherited Epidermolysis Bullosa. Drugs 82, 1277–1285 (2022). https://doi.org/10.1007/s40265-022-01770-8

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