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. NS is a multisystemic
disease with numerous extracutaneous manifestations. Current therapy for
patients with NS is mainly supportive, as there is no curative or
specific treatment, especially for children with NS, but targeted
therapies are being developed. We describe an eight-year-old boy with
genetically proven NS treated with intravenous immunoglobulin for
recurrent skin and systemic infections from infancy, growth retardation,
and associated erythroderma. Under this therapy, his skin status,
infectious exacerbations, and quality of life all improved. Knowledge of
the cytokine-mediated pathogenesis of NS and the development of new
biologic drugs open new possibilities for NS patients. However, the
different therapeutic options have been applied in a limited number of
cases, and variable responses have been shown. Randomized controlled
trials with a sufficient number of patients stratified and treated
according to their specific immune profile and clinical phenotype are
needed to evaluate the safety and efficacy of treatment options for
patients with NS.
Keywords : Netherton syndrome, children, infections, treatment,
ichthyosis linearis circumflexa, ichthyosiform erythroderma
Word Count: 2407