EB Simplex

defining characteristics

Less severe bc blistering in higher skin layers
more superficial (but painful blisters), non-scarring, localized to hands/ feet/ extremities, no mucus membrane involvement
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disease development

Superficial blistering within the epidermis caused by disorganization of keratin intermediate filament network
Dominant mutation causes complete disruption of the keratin polymer (even if you have one nl K14)
Recessive mutation causes truncated protein or loss of protein but not as problematic

potential causes

Genetic defects w/ keratin (arginine at position G of alpha-helix heptad is mutated)


risk factors


Histology? Cytolytic fracture / cleavage plane below the nuclei of basal cells –> aggregation of keratin fibers

conventional treatment