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Article

A novel SPINK5 mutation and successful subcutaneous immunoglobulin replacement therapy in a child with Netherton syndrome.

Pediatric dermatology - 1 Nov 2020

Zelieskova Maria, Banovcin Peter, Kozar Marek, Kozarova Andrea, Nudzajova Zuzana, Jesenak Milos

Abstract excerpt

We report a 2-year-old patient with Netherton syndrome presenting with generalized exfoliative erythroderma, ichthyosiform dermatitis, trichorrhexis invaginata, hypernatremic dehydration, failure to thrive, and recurrent respiratory infections. Molecular analysis of SPINK5 identified a novel mutation (c.1530CA). Our case report also verifies and supports the safety and efficacy of subcutaneous immunoglobulin...

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Identifiers

PMID: 32767583
DOI: 10.1111/pde.14318

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