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Case Reports
. 2024 Apr 16;12(4):e8770.
doi: 10.1002/ccr3.8770. eCollection 2024 Apr.

Netherton syndrome-A therapeutic challenge in childhood

Polina Kostova  1   2 , Guergana Petrova  1   2 , Martin Shahid  3   4 , Vera Papochieva  2 , Dimitrinka Miteva  1   2 , Ivelina Yordanova  5 , Kossara Drenovska  3   4 , Irena Bradinova  6 , Camila K Janniger  7 , Robert A Schwartz  8 , Snejina Vassileva  3   4
Affiliations
Case Reports

Netherton syndrome-A therapeutic challenge in childhood

Polina Kostova et al. Clin Case Rep. .

Abstract

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. 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 8-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; ichthyosiform erythroderma; ichthyosis linearis circumflexa; infections; treatment.

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Conflict of interest statement

The authors declare that the article was written without financial or commercial motives that could represent a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
Photos taken during the stay in the neonatology ward showing diffuse redness and scaling all over the body.
FIGURE 2
FIGURE 2
Photos taken over the years during exacerbations.
FIGURE 3
FIGURE 3
Trichoscopy and clinical photos taken at admission to the pediatric clinic.
FIGURE 4
FIGURE 4
Photos from the hospital stay for the fourth infusion.
See this image and copyright information in PMC

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References

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