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Causes and Subtypes

Epidermolysis bullosa (EB) is a group of genetic conditions, together affecting approximately 1 in 17,000 live births, with an estimated 500,000 people worldwide living with EB. The condition is always painful, frequently very disabling and life threatening and, in its most severe forms, fatal in infancy.

There are currently three main types of the condition recognised, and these are defined by how deeply into the skin the blistering occurs. Each type has multiple subtypes (see box below), but as knowledge increases about the condition, classification of types and subtypes is refined, and there is also 'hemidesmosomal' EB sometimes considered to be a fourth type of EB, and other previously known skin blistering conditions, such as Kindler syndrome, are now also considered to be part of the broader EB classification.

More than 30 subtypes or variants of EB are recognised by clinicians. Subtypes vary greatly in the way they affect the skin and other parts of the body, and the type of complications that can arise.

Some subtypes of EB are inherited dominantly (i.e. where only one parent needs to have the condition for it to be passed on to children), and others have a recessive pattern of inheritance (i.e. both parents need to be carriers of  - or affected by - the condition for it to be passed to the children). If carriers, the parents themselves may not themselves be affected at all or know they carry an EB gene. A rare form of EB, called EB acquisita, is not inherited but is an autoimmune disease resulting from the body mistakenly making antibodies against its own collagen: EB acquisita can be severe and symptomatically resembles recessive dystrophic EB (RDEB).

Types of epidermolysis bullosa (EB)

TypeNumber of subtypesInheritance of subtypesKey genes affected
EBS~ 12 subtypesdominant or recessiveKeratins 5, 14, Plectin
JEB~ 6 subtypesrecessiveCollagen XVII, Integrin, Laminin
DEB~ 13 subtypesdominant or recessiveCollagen VII
  • Approximately 500,000 people worldwide are thought to have EB
  • 3 main types and more than 30 subtypes/ variants have been recognised
  • Severe forms are life threatening, but ~70% of people with EB have the less severe types
  • Inheritance of EB is gender and ethnic-group non-specific, though recessive forms tend to be more prevalent where marriage occurs between close relatives

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