Article
Netherton Syndrome in a Mother and Her Two Children.
South Dakota medicine : the journal of the South Dakota State Medical Association - 1 Dec 2022
DeMoss Jack, Cooper Leslie, Felts Colby, Wittenberg Gregory
Abstract excerpt
Netherton syndrome (NS) is a rare autosomal recessive condition caused by mutations in the serine peptidase inhibitor, Kazal type 5 (SPINK5) gene which encodes for a serine protease inhibitor, lymphoepithelial Kazal-typerelated inhibitor (LEKT1). NS is characterized by a triad of ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis with elevated IgE levels. The syndrome typically presents in...
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