Netherton syndrome: a neonatal case with respiratory insufficiency


Okulu E., Tunc G. , Erdeve O., Mumcu Y., Atasay B., Ince E., ...Daha Fazla

ARCHIVOS ARGENTINOS DE PEDIATRIA, cilt.116, sa.4, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 116 Konu: 4
  • Basım Tarihi: 2018
  • Doi Numarası: 10.5546/aap.2018.eng.e609
  • Dergi Adı: ARCHIVOS ARGENTINOS DE PEDIATRIA

Özet

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.