Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis.

In an attempt to devise a strategy to identify individuals with TGase1 deficiency, we evaluated 21 Italian patients who had different phenotypes of autosomal recessive congenital ichthyosis using electron microscopy analysis, in situ TGase1 assay, and molecular analysis of the TGM1 gene. We also determined the efficiency of noninvasive light microscopy of epidermal scales in identifying TGase1- deficient patients