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