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