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A retrospective cohort study evaluating the accuracy of clinical diagnosis compared with immunofluorescence and electron microscopy in children with inherited epidermolysis bullosa

Traditionally, the diagnosis of epidermolysis bullosa (EB) was made using electron microscopy (EM), and immunofluorescence mapping (IFM). Increasingly, genomics plays a role in the diagnosis of EB, and other genetic conditions, with a result turn-around-time as little as 1-3 weeks. The rapid turn around time and accuracy of genetic testing mandates a rethink on the way that we currently assess infants and children with EB. A biopsy is invasive and can be distressing for caregivers. Given the limitations of skin biopsy in some situations, the future should see genetic testing as a first-line investigation. However, it is important to note that currently, in severe neonates and infants with EB, a biopsy remains a first line investigation since clinical diagnosis is not accurate using current scoring systems and even when assessed by experts in EB. This article is protected by copyright. All rights reserved.