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-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 116 Sayı: 4
  • Basım Tarihi: 2018
  • Doi Numarası: 10.5546/aap.2018.eng.e609
  • Dergi Adı: ARCHIVOS ARGENTINOS DE PEDIATRIA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Infant newborn, Netherton syndrome, respiratory insufficiency, EXPRESSION, MUTATIONS, SPINK5
  • Sivas Cumhuriyet Üniversitesi Adresli: Evet

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.