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

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.

Keywords

• Ichthyosis
• erythroderma
• Netherton syndrome
• atopy
• whole exome sequencing