Journal of Pediatric Research (Mar 2018)

A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome

  • Fatma Derya Bulut,
  • Deniz Kör,
  • Berna Şeker Yılmaz,
  • Mustafa Yılmaz,
  • Derya Ufuk Altıntaş,
  • Serdar Ceylaner,
  • Sebile Kılavuz,
  • Neslihan Önenli Mungan

DOI
https://doi.org/10.4274/jpr.63825
Journal volume & issue
Vol. 5, no. 1
pp. 54 – 56

Abstract

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Typical features of Netherton syndrome are congenital ichthyosiform erythroderma, atopic diathesis and trichorrhexis nodosa. Here in this report, we present a case with congenital ichthyosis with atopy presenting later. We wanted to discuss the importance of whole exome sequencing to diagnose the atypical presentations of common syndromes.

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