The clinical spectrum of epidermolysis bullosa simplex

As part of the U.K. National Epidermolysis Bullosa Register, we have system atically recorded clinical information on 130 (77%) of the 168 known Scotti sh epidermolysis bullosa simplex (EBS) sufferers. Three subtypes of EBS wer e recognized: Dowling-Meara (EBS-DM), Weber-Cockayne (EBS-WC) and Kobner (E BS-Kb), seen in 5%, 42% and 53% of patients, respectively. As there is cons iderable overlap between EBS-WC and EBS-Kb, with both phenotypes frequently seen within the same pedigree, EBS-WC is best regarded as a milder variant of EBS-Kb rather than a separate disorder, Improvement with age is common in all variants of EBS, but is not invariable, Pain due to acral blistering in EBS-Kb/EBS-WC has a more marked impact on life-style than the blisters of EBS-DM. Oral blistering, nail involvement and aplasia cutis congenita oc cur in all EBS subtypes and laryngeal involvement is a feature of EBS-DM. S easonal variation is not seen in EBS-DM but is common in EBS-Kb/EBS-WC.