[10] In the absence of mutations, however, an autoimmune response against type VII collagen can result in an acquired form of this disease called epidermolysis bullosa acquisita.

[7][9] Recessive dystrophic epidermolysis bullosa, generalized intermediate, is caused primarily by missense, in-frame, and splice-site mutations on one allele.

These mutations cause little to no expression of collagen VII, which manifests primarily as generalized blistering in the skin and mucosal membranes.

[7] This blistering may also lead to several other complications, such as eye abrasions, esophageal stricture, deformity of the hands and feet, and squamous cell carcinoma, among others.

[7][9] The symptoms of dominant dystrophic epidermolysis bullosa are less severe than those of the recessive types, with mild blistering and loss of nails.

[19][20] Collagen, type VII, alpha 1 forms a complex network with several other proteins in the basement membrane.