Netherton syndrome: a neonatal case with respiratory insufficiency

OKULU E., Tunc G., ERDEVE Ö., Mumcu Y., Atasay B., Ince E., ...More

ARCHIVOS ARGENTINOS DE PEDIATRIA, vol.116, no.4, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 116 Issue: 4
  • Publication Date: 2018
  • Doi Number: 10.5546/aap.2018.eng.e609
  • Journal Name: ARCHIVOS ARGENTINOS DE PEDIATRIA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: Infant newborn, Netherton syndrome, respiratory insufficiency, EXPRESSION, MUTATIONS, SPINK5
  • Ankara University Affiliated: Yes

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.