Netherton syndrome: A neonatal case with respiratory insufficiency

Archivos argentinos de pediatría
Emel OkuluSaadet Arsan

Abstract

Netherton syndrome (NS) is a rare, autosomal recessive disease characterized with congenital ichthyosiform erythroderma, hair abnormality and atopic manifestations. This syndrome is caused by recessive mutation in the SPINK5 gene. Disease manifestations vary considerably among NS individuals. We report a newborn presented with severe respiratory insufficiency, hypothermia and erythroderma, was diagnosed as having NS and confirmed with molecular genetic testing.

Citations

May 28, 2021·Frontiers in Pediatrics·Federica BarbatiGiuseppe Indolfi

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