Polina Kostova, Guergana Petrova, Martin Shahid, Vera Papochieva, Dimitrinka Miteva, Ivelina Yordanova, Kossara Drenovska, Irena Bradinova, Camila K Janniger, Robert A Schwartz, Snejina Vassileva
KEY CLINICAL MESSAGE: High-dose intravenous immunoglobulin exhibits great potential in the treatment of Netherton syndrome. 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 profile: ichthyosiform erythroderma and ichthyosis linearis circumflexa...
April 2024: Clinical Case Reports