Recent advances in molecular biology have enabled the association of 
epidermolysis bullosa simplex (EBS) with point mutations of keratin 14 and/or 
keratin 5 genes to be established. We describe here the detection of point 
mutations in genomic DNA from formalin-fixed and paraffin-embedded sections from 
five cases of epidermolysis bullosa using the PCR amplification of specific 
alleles (PASA) method. In two of four cases of Köbner-type EBS a point mutation 
of helix 2b (384 Leu-Pro) was detected and in one case of Dowling-Meara-type EBS 
a mutation in helix 1a (125 Arg-Cys) was detected. The results of this study are 
consistent with previous reports and they demonstrate that the PASA method is a 
rapid and reproducible method for the detection of single-base changes and small 
deletions.