title: The clinical spectrum of epidermolysis bullosa simplex.
abstract: 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.
authors.affiliation: Department of Dermatology, Royal Infirmary of Edinburgh, The Lauriston Building, Lauriston Place, Edinburgh EH3 9YW, U.K.
authors.forename: H M
authors.initials: HM
authors.lastname: Horn
authors.forename: M J
authors.initials: MJ
authors.lastname: Tidman
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D016110:Epidermolysis Bullosa Simplex / Q000145:classification / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009061:Mouth Mucosa / Q000473:pathology*; D010375:Pedigree; D010641:Phenotype; D012867:Skin / Q000473:pathology*