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The clinical spectrum of epidermolysis bullosa simplex

✍ Scribed by H.M. Horn; M.J. Tidman

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
208 KB
Volume
142
Category
Article
ISSN
0007-0963

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✦ Synopsis

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 KΓΆbner (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.

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Plectin expression patterns determine tw
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Plectin is a cytoskeletal linker protein that has a dumbbell-like structure with a long central rod and N-and C-terminal globular domains. Mutations in the gene encoding plectin (PLEC1) cause two distinct autosomal recessive subtypes of epidermolysis bullosa (EB): EB simplex with muscular dystrophy

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## Background: A distinctive subtype of epidermolysis bullosa simplex, with the additional feature of mottled pigmentation (ebs-mp), was initially characterized in a swedish family in 1979, and seven further families have been reported. features of ebs-mp that are observed in most affected patients

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Epidermolysis bullosa simplex (EBS) is a skin fragility disorder in which mild physical trauma leads to blistering. The phenotype of the disorder is variable, from relatively mild affecting only the hands and/or feet, to very severe with widespread blistering. For the severest forms of EBS there is