Generalized junctional epidermolysis bullosa (JEB) is caused by mutations in LAMA3, LAMB3, or LAMC2, which together encode laminin-332, a heterotrimeric protein consisting of α3, β3, and γ2 chains (Fine et al., 2014). In nonlethal generalized intermediate JEB, laminin-332 is highly reduced, and hemidesmosomes are rudimentary or completely absent, leading to blister formation within the lamina lucida of the basement membrane upon minor trauma. The resulting chronic skin wounds invariably develop recurrent infections and scarring, which greatly impair patients’ quality of life (Fine et al., 2014; Laimer et al., 2010; Nakano et al., 2002).
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Bauer et al. (2016) studied this question.
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