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


BULUT F. D. , KOR D. , Yilmaz B. S. , YILMAZ M. , ALTINTAŞ D. U. , Ceylaner S., et al.

JOURNAL OF PEDIATRIC RESEARCH, cilt.5, ss.54-56, 2018 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 5 Konu: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/jpr.63825
  • Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
  • Sayfa Sayısı: ss.54-56

Özet

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.