Overview of epidermolysis bullosa

Abstract

Epidermolysis bullosa (EB) is classified into major types -EB simplex (EBS), junctional EB (JEB) and dystrophic EB (DEB) -on the basis of the level of tissue separation within the cutaneous basement membrane zone. Recent advances in research on EB have led to the identification of 10 genes responsible for EB. The Japanese Ministry of Health, Labor and Welfare has designated JEB and DEB, but not EBS, as specified diseases. However, EBS has a lethal variant and should also be registered as a specified disease. In the Third Consensus Meeting on the Diagnosis and Classification of EB held in Vienna in 2007, it was recommended that Kindler syndrome should be classified as a subtype of EB. Corrective gene therapy is the most ideal therapy for EB, but much more research is required before it can be developed and used in clinical practice. Cell-based therapies using fibroblasts and bone marrow cells have recently attracted considerable attention.

Impact de l'interféron gamma sur la production de la kératine 15 dans les kératinocytes isolés de la peau de patients atteints d'épidermolyse bulleuse simplex /

“…Les EBH sont subdivisées en trois principaux types en fonction de la couche de la peau atteinte (Sawamura et a/., 2010 phénotype le plus sévère) (Sawamura et al, 2010). Les mutations qui causent le phénotype modéré (EBS-loc) sont localisées dans le domaine Linker (Ll-2) et celles qui causent l'EBS-DM sont généralement situées au niveau du domaine central (1A ou 2B) (Chan et al, 1993;Lane et al, 1992).…”

Junctional and Dystrophic Epidermolysis Bullosa

“…Epidermolysis bullosa (EB) is a congenital genodermatosis, which affects mainly skin and occasionally other organs [1]. Lifelong blistering and erosion of the skin and mucous membrane, caused by mechanical trauma, threaten EB patients [1].…”

“…Lifelong blistering and erosion of the skin and mucous membrane, caused by mechanical trauma, threaten EB patients [1]. The most common cause of death is metastasizing squamous cell carcinoma [2].…”

“…The most common cause of death is metastasizing squamous cell carcinoma [2]. EB is subdivided into mainly three categories by the location of tissue separation (blister) in the basement membrane zone (BMZ) at the electronmicroscopical level, EB simplex (EBS), dystrophic EB (DEB) and junctional EB (JEB) [1]. Some dermatologists also proposed to distinguish hemidesmosomal epidermolysis bullosa [3].…”

Esophageal Stenosis - a Notable Complication of Epidermolysis Bullosa - case report

“…The disease manifests by the occurrence of blisters or erosions both on the surface of the skin and, in some cases, on the epithelial lining of the organs, as a response to minor trauma [1]. Based on the level of tissue separation within the cutaneous basement membrane zone there are three major types of EB: simplex, junctional and dystrophic, each of them caused by a genetic mutation and each of them having various subtypes that display individual clinical effects [2].…”