In congenital dystrophic variety of epidermolysis bullosa, mutation is seen in the gene coding for:
Dystrophic Epidermolysis Bullosa (DEB): It is a spectrum of dermolytic diseases where blistering occurs below the basal lamina; healing is therefore usually accompanied by scarring and milia formation--hence, the name dystrophic. There are four principal subtypes, and all are due to mutations in anchoring fibril type VII collagen. Anchoring fibrils are therefore only rudimentary or absent. Of the four main types of DEB, dominant DEB or Cockayne-Touraine disease and recessive DEB (RDEB) are impoant. There is as yet no causal therapy for EB, but gene therapy is being investigated. Ref: Suurmond D. (2009). Section 6. Bullous Diseases. In D. Suurmond (Ed), Fitzpatrick's Color Atlas & Synopsis of Clinical Dermatology, 6e.
Laminin 4
Collagen type 7
Alpha 6 integrin
Keratin 14