DEB is caused by genetic defects (or mutations) within the human COL7A1 gene encoding the protein type VII collagen (collagen VII). DEB-causing mutations can be either dominant or recessive. Most families with family members with this condition have distinct mutations. Collagen VII is a very large molecule (300 kDa) that dimerizes to form a semicircular looping structure: the anchoring fibril. Anchoring fibrils are thought to form a structural link between the epidermal basement membrane and the fibrillar collagens in the upper dermis.
Epidermolysis bullosa dystrophica
Epidermolysis bullosa acquisita
Dyskeratosis congenita
Epidermolysis bullosa simplex
Pachyonychia congenita
Dermatopathia pigmentosa reticularis
Erythrokeratodermia variabilis
Linitis plastica