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The clinical spectrum of epidermolysis bullosa simplex
Author(s) -
Horn H.M.,
Tidman M.J.
Publication year - 2000
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1046/j.1365-2133.2000.03358.x
Subject(s) - epidermolysis bullosa simplex , dermatology , epidermolysis bullosa , medicine , dermatopathology
As part of the U.K. National Epidermolysis Bullosa Register, we have systematically recorded clinical information on 130 (77%) of the 168 known Scottish epidermolysis bullosa simplex (EBS) sufferers. Three subtypes of EBS were recognized: Dowling–Meara (EBS‐DM), Weber–Cockayne (EBS‐WC) and Köbner (EBS‐Kb), seen in 5%, 42% and 53% of patients, respectively. As there is considerable 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 occur in all EBS subtypes and laryngeal involvement is a feature of EBS‐DM. Seasonal variation is not seen in EBS‐DM but is common in EBS‐Kb/EBS‐WC.