A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome
oleh: Fatma Derya Bulut, Deniz Kör, Berna Şeker Yılmaz, Mustafa Yılmaz, Derya Ufuk Altıntaş, Serdar Ceylaner, Sebile Kılavuz, Neslihan Önenli Mungan
| Format: | Article |
|---|---|
| Diterbitkan: | Galenos Yayinevi 2018-03-01 |
Deskripsi
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.