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  • A subtype of dystrophic epidermolysis bullosa characterised by generalised cutaneous and mucosal blistering that is not associated with severe deformities.The disease manifests at birth or during the neonatal period with generalised blistering. Aplasia cutis congenita can also be observed at birth. The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma. Transmission is autosomal recessive.
  • A subtype of dystrophic epidermolysis bullosa characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.The disease manifests at birth or during the neonatal period with generalized blistering. Aplasia cutis congenita can also be observed at birth. The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma. Transmission is autosomal recessive.
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