Epidermolysis bullosa (EB) is a class of intractable, rare, genetic disorders characterised by fragile skin and blister formation as a result of dermal-epidermal mechanical instability. EB presents with considerable clinical and molecular heterogeneity. The authors identified a spontaneous, autosomal recessive mutation (Lamc2(jeb)) due to a murine leukaemia virus long terminal repeat insertion in Lamc2 (laminin gamma2 gene) that results in a hypomorphic allele with reduced levels of LAMC2 protein. These mutant mice develop a progressive blistering disease validated at the gross and microscopic levels to closely resemble generalised non-Herlitz JEB. The Lamc2(jeb) mice display additional extracutaneous features such as loss of bone mineralisation and abnormal teeth, as well as a respiratory phenotype that is recognised but not as well characterised in humans. This model faithfully recapitulates human JEB and provides an important preclinical tool to test therapeutic approaches.
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J Invest Dermatol ; 1819-1828 ; July 2010
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on rare skin diseases
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