Article
Netherton syndrome: A neonatal case with respiratory insufficiency.
Archivos argentinos de pediatria - 1 Aug 2018
Okulu Emel, Tunc Gaffari, Erdeve Omer, Mumcu Yelda, Atasay Begum, Ince Erdal, Arsan Saadet
Abstract excerpt
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...
Topics
- Humans
- Hypothermia
- Ichthyosiform Erythroderma, Congenital
- Infant, Newborn
- Male
- Mutation
- Netherton Syndrome
- Respiratory Insufficiency
- Serine Peptidase Inhibitor Kazal-Type 5