Heterogeneity of severe dystrophic epidermolysis bullosa: overexpression of collagen VII by cutaneous cells from a patient with mutilating disease.

Abstract excerpt

Severe mutilating recessive dystrophic epidermolysis bullosa presents with extensive blistering, scarring, and pseudosyndactylies. The skin of most affected individuals lacks normal anchoring fibrils and contains no, or drastically reduced amounts of, collagen VII, the major fibril component. Here we present evidence for molecular heterogeneity of the mutations underlying this phenotype. A patient with severe...

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