A guide to national networking on epidermolysis bullosa
Epidermolysis bullosa (EB) is an umbrella term used for a group of genetic skin fragility disorders characterised by blister formation in response to minimal trauma. While there are currently 29 separate conditions identified, involving abnormalities of 14 genes, EB can be classified into three main categories: EB simplex (EBS), involving intraepidermal separation with the genetic defect arising in keratin 5 or 14; junctional EB (JEB), comprising separation in the lamina lucida with the genetic abnormality in the collagen XVII gene and laminin-332; and dystrophic EB (DEB), with sublamina separation and a genetic abnormality occurring in the collagen VII gene type. EBS may affect only the hands and feet, but can, on occasion, be more widespread, whereas DEB and JEB are usually more generalised. The inheritance may be either autosomal dominant or autosomal recessive, the latter group usually having far more severe symptoms with more far-reaching consequences.
Dermatology in practice 2013; 19(3): 10–13
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