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

Autor:	Fatma Derya Bulut, Deniz Kör, Berna Şeker Yılmaz, Mustafa Yılmaz, Derya Ufuk Altıntaş, Serdar Ceylaner, Sebile Kılavuz, Neslihan Önenli Mungan
Jazyk:	English<br />Turkish
Rok vydání:	2018
Předmět:	Ichthyosis erythroderma Netherton syndrome atopy whole exome sequencing Medicine Pediatrics RJ1-570
Zdroj:	Journal of Pediatric Research, Vol 5, Iss 1, Pp 54-56 (2018)
Druh dokumentu:	article
ISSN:	2147-9445 2587-2478
DOI:	10.4274/jpr.63825
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/68bba7beafc7468a82d7f42d4071799e Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF