Rare Diseases Symptoms Automatic Extraction

Inherited epidermolysis bullosa: new diagnostic criteria and classification.

[junctional epidermolysis bullosa]

Epidermolysis bullosa (EB) is a group of inherited, mechanobullous disorders caused by mutations in various structural proteins in the skin. There have been several advances in the classification of EB since it was first introduced in the late 19th century. We now recognize four major types of EB, depending on the location of the target proteins and level of the blisters: EB simplex (epidermolytic), junctional EB (lucidolytic), dystrophic EB (dermolytic), and Kindler syndrome (mixed levels of blistering). This contribution will summarize the most recent classification and discuss the molecular basis, target genes, and proteins involved. We have also included new subtypes, such as autosomal dominant junctional EB and autosomal recessive EB due to mutations in the dystonin (DST) gene, which encodes the epithelial isoform of bullouspemphigoid antigen 1. The main laboratory diagnostic techniques-immunofluorescence mapping, transmission electron microscopy, and mutation analysis-will also be discussed. Finally, the clinical characteristics of the different major EB types and subtypes will be reviewed.

Diseases presenting "diagnostic techniques-immunofluorescence mapping" symptom

  • epidermolysis bullosa simplex
  • junctional epidermolysis bullosa
  • kindler syndrome

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