Épidermolyse bulleuse jonctionnelle

LAMB3 gene recurrent mutations R636X and R42X account for about 50p. 100 of EBJ cases affecting Caucasians while mutation Q1083X, affecting the same gene, is recurrent in Arab populations. The newly identified mutation results in extremely reduced synthesis of α3 chain and truncation of its C-terminal domain, which is crucial for the intermolecular interactions of laminin-5. Our data are in accordance with recent reports suggesting geographical specificity of EBJ mutations linked to founder effects which are amplified by consanguineous marriages in genetically isolated populations. Otherwise, the observation of other unexplored cases of bullous dermatoses with early demise originating from the same region of the two families herein reported highlights the need for the implementation of a prenatal and postnatal diagnostic strategy regarding these genodermatoses. These studies should target LAMA3 and other genes involved in JEB too.