Criteria
Fifth international consensus on diagnosis and sub-classification of EB[2]
Since 1989, five successive international consensus meetings have been held to update the classification of epidermolysis bullosa (EB) patients based on the following: where blisters arise ultrastructurally within the skin; their clinical phenotype (both cutaneous and extracutaneous); their genetic mode of inheritance; and their genotypic features. Successive classifications have been updated to include several newly described variants of EB, as well as newly identified causative genes. Consequently, where possible, patients are grouped based on the abnormal structural proteins within their skin, as well as specific mutations, if known.
An 'onion skin' technique was proposed in the fourth classification system, whereby patients are sequentially characterised, when data permit, by the ultrastructural level of skin cleavage, mode of inheritance, clinical findings, immunohistochemical and/or electron microscopic features, targeted proteins, and finally by mutational analysis.[3]
The fifth consensus classification divides disorders into those where skin fragility is the principal disease manifestation and those where skin fragility is a relatively minor component of the syndrome.[2] See Classification.
Use of this content is subject to our disclaimer