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Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis
Author(s) -
Esposito G.,
Tadini G.,
Paparo F.,
Viola A.,
Ieno L.,
Pennacchia W.,
Messina F.,
Giordano L.,
Piccirillo A.,
Auricchio L.
Publication year - 2007
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2007.08070.x
Subject(s) - lamellar ichthyosis , congenital ichthyosis , ichthyosis , medicine , dermatology , genetics , pathology , biology
In an attempt to devise a strategy to identify\udindividuals with TGase1 deficiency, we evaluated 21 Italian\udpatients 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-\uddeficient patients