Genotype-Phenotype Correlations in Recessive Dystrophic Epidermolysis Bullosa

Does the type or location of variants predict disease severity and extracutaneous complications in recessive dystrophic epidermolysis bullosa (RDEB)?This systematic review of 217 studies and DEB Registry data including 1802 patients with 1002 unique variants, found that frameshift and nonsense variants producing premature termination codons (PTCs) were associated with severe RDEB, while missense and non-PTC variants were associated with milder subtypes. Variants affecting the noncollagenous 1 domain were most frequently associated with severe disease, while extracutaneous complications predominantly occurred in patients with PTC genotypes.In this systematic review, genotype reliably predicted RDEB severity, enabling improved prognostication and informing precision therapeutic strategies.

Corresponding Author: Su M. Lwin, MBBS, PhD, St John’s Institute of Dermatology, School of Basic and Medical Biosciences, King’s College London, 9th Floor, Tower Wing, Guy’s Hospital, Great Maze Pond, London SE1 9RT, United Kingdom (su.m.lwin@kcl.ac.uk).

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