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

BULUT, FATMA; KOR, DENİZ; Yilmaz, Berna; YILMAZ, MUSTAFA; ALTINTAŞ, DERYA; Ceylaner, Serdar; Kilavuz, Sebile; Mungan, H.NESLİHAN

doi:10.4274/jpr.63825

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., ...Daha Fazla

JOURNAL OF PEDIATRIC RESEARCH, cilt.5, sa.1, ss.54-56, 2018 (ESCI, TRDizin)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 5 Sayı: 1
Basım Tarihi: 2018
Doi Numarası: 10.4274/jpr.63825
Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
Sayfa Sayıları: ss.54-56
Çukurova Üniversitesi Adresli: Evet

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.