All issues > Volume 46(4); 2003

Case Report

J Korean Pediatr Soc. 2003;46(4):389-392. Published online April 15, 2003.

A Case of Netherton's Syndrome in a Newborn

Eun-Hee EH Lee¹, Ellen Ai-Rhan ER Kim¹, Ki-Soo KS Kim¹, Beom-Jin BJ Cho², Jai-Kyoung JK Koh³, Soo-Young SY Pi¹

¹Department of Radiology, College of Medicine, Ulsan University, Asan Medical Center, Seoul, Korea
²Department of Ophthalmology, Asan Medical Center, College of Medicine, Ulsan University, Seoul, Korea
³Department of Dermatology, Asan Medical Center, College of Medicine, Ulsan University, Seoul, Korea

Correspondence Ellen Ai-Rhan ER Kim ,Email: arkim@amc.seoul.kr

Abstract

Netherton's syndrome is an unusual disorder which consists of triad of ichtyosiform dermatosis, multiple defects of hair shaft and an atopic diathesis. The finding of bamboo hair is pathognomic in Netherton's syndrome and the ichthyosiform dermatosis may consist of either ichtyosis linearis circumflexa or congenital ichthyosiform erythroderma. Often, variability in the clinical features leads to a delay in diagnosis in many cases. We report a case of Netherton's syndrome diagnosed in the neonatal period. The patient presented with severe ichthyosis and confirmed microscopically distinctive bamboo hair.

Keywords :Netherton's syndrome, Ichthyosiform dermatosis, Bamboo hair, Newborn