Clinical diagnosis confirmed by SPINK5 genetic testing on genomic DNA
from blood and/or immunohistochemistry (IHC) on skin sections from
formalin-fixed paraffin-embedded biopsies using anti-LEKTI
(lymphoepithelial Kazal-type-related inhibitor ) polyclonal
antibodies directed to the D7D12 or D13D15 C-terminal regions, as
described(17).
° The second mutation was not identified; ND : not done.
Previously unreported SPINK5 mutations are in bold