165 Combining antisense molecules with splicing modulation for KRT14 repair in epidermolysis bullosa

Mutation analysis of KRT5 and KRT14 genes with epidermolysis bullosa simplex PhD thesis

Novel KRT14 mutation in a Taiwanese patient with epidermolysis bullosa simplex (Köbner type).

Epidermolysis bullosa simplex (EBS) is a group of hereditary bullous diseases characterized by intraepidermal blistering due to mechanical stress-induced degeneration of basal keratinocytes. Three major subtypes have been identified with autosomal dominant inheritance: the Weber-Cockayne type, the Köbner type (EBS-K), and the Dowling-Meara type. All three EBS subtypes are caused by mutations in...

A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations.

Background Epidermolysis bullosa simplex (EBS) is a rare genodermatosis resulting from multiple gene mutations, including KRT5 and KRT14. The clinical expression of the mechanobullous skin fragility disease has not been fully explained by the genotype. Case Description An 11-day-old Japanese newborn infant was hospitalized because of herpetiform skin blistering on the feet, which expanded syste...

Epidemiology of epidermolysis bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa.

OBJECTIVE To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia. DESIGN Observational study (cross-sectional and longitudinal). SETTING Australian private dermatology practice, inpatient ward, and outpatient clinic. PATIENTS Systematic case finding of patients with EB simplex, junctional EB (JEB...

A Newborn with Epidermolysis Bullosa

Bullous disorders of newborn are a rare entity. Genetically inherited bullous disorders, especially the dystrophic and junctional types have a fatal course (1). Breach of the epidermis in the newborn predisposes them to sepsis.