" /> Epidermolysis bullosa simplex, localised - CISMeF





Preferred Label : Epidermolysis bullosa simplex, localised;

ICD-11 definition : Localised epidermolysis bullosa simplex (EBS-loc), formerly known as EBS Weber-Cockayne, is an autosomal dominant basal subtype of EBS due to mutations in the KRT5 and KRT14 genes encoding keratins 5 and 14 respectively. The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.;

ICD-11 synonym : localised EBS- [epidermolysis bullosa simplex]; localised EBS; Epidermolysis bullosa simplex, Weber-Cockayne; epidermolysis bullosa simplex;

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Localised epidermolysis bullosa simplex (EBS-loc), formerly known as EBS Weber-Cockayne, is an autosomal dominant basal subtype of EBS due to mutations in the KRT5 and KRT14 genes encoding keratins 5 and 14 respectively. The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.

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06/05/2025


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