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., ...More

JOURNAL OF PEDIATRIC RESEARCH, vol.5, no.1, pp.54-56, 2018 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 5 Issue: 1
  • Publication Date: 2018
  • Doi Number: 10.4274/jpr.63825
  • Journal Name: JOURNAL OF PEDIATRIC RESEARCH
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.54-56
  • Çukurova University Affiliated: Yes

Abstract

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.