Abstract
Netherton syndrome (NS) is a rare autosomal recessive genodermatosis
(OMIM #256500) characterized by superficial scaling, atopic
manifestations, and multisystemic complications. It is caused by
loss-of-function mutations in the SPINK5 gene, which encode a key
kallikrein protease inhibitor. There are two subtypes of the syndrome
that differ in clinical presentation and immune