Significantly, researchers observed the correct type of VII collage localisation at anchoring fibrils
2 The cause of this disorder is due to absent or infective connective tissue anchoring fibrils
, causing a loosely bound epithelial-sub epithelial interface.
The gene-corrected graft sites showed type VII collagen localization to anchoring fibrils
at the dermal-epidermal junction, in contrast to control sites that showed no such localization or fibril formation.
Type VII collagen is the major component of anchoring fibrils
at the dermal-epidermal junction and the main target of immune system in BSLE such as epidermolysis bullosa acquisita.
C7 is the main component of anchoring fibrils
that attach the dermis to the epidermis.
In 1928, Pasini described a single family whose EB was distinguished by the presence of numerous white papules that he called 'albopapuloid' lesions Ultra structurally; the level of blistering or tissue cleavage in all dystrophic forms of EB is immediately below the lamina densa of the epidermal basement membrane, at a site normally occupied by anchoring fibrils
Although electron microscopy has suggested an abnormality in anchoring fibrils
, this cellular change does not fully explain the development of multiple blisters at varying sites.
The debilitating condition is caused by significantly reduced collagen type 7 protein (col7) production, a key component of the anchoring fibrils
that connect the cutaneous membranes to the dermis of the skin and mucosal tissues in the gastrointestinal tract.
The acquired type (epidermolysis bullosa acquisita) is a chronic autoimmune disorder characterized by the presence of autoantibodies against type VII collagen, which make up the anchoring fibrils
along the dermal-epidermal junction.
Many patients with dystrophic EB show marked reductions in, or a total absence of, anchoring fibrils
It is caused by a mutation of the COL7A1 gene, which encodes for type VII collagen (COL7), a protein that forms anchoring fibrils
without which the skin layers separate causing severe blistering, open wounds and scarring in response to any kind of friction, rubbing or scratching.
hold together the layers of skin, and without them, skin layers separate causing severe blistering, open wounds and scarring in response to any kind of friction, including normal daily activities like rubbing or scratching.