Bilgili S Gunes, Karadag A S, Calka O, Onder S, Bayram I
Genet Couns. 2016;27(3):353-356.
Ichthyosis Linearis Circumfiexa (ILC) is a rarely seen autosomal recessive keratinization disorder and is characterized by erythematous, polycystic, plaques with 'double-edged' scales. Its histological features resemble psoriasis. A triad of ichthyosis (usually Ichthyosis Linearis Circumfiexa), trichorrhexis invaginata (a distinctive hair shaft disorder) and atopy is named as Netherton syndrome. Herein, we report a 12 year-old girl presenting with ILC not accompanied with typical atopy findings and hair shaft disorder.
线状回旋性鱼鳞病(ILC)是一种罕见的常染色体隐性角化障碍性疾病,其特征为红斑、多囊性斑块及“双边”鳞屑。其组织学特征类似银屑病。鱼鳞病(通常为线状回旋性鱼鳞病)、套叠性脆发症(一种独特的毛干疾病)和特应性体质三联征被称为Netherton综合征。在此,我们报告一名12岁女孩,患有线状回旋性鱼鳞病,但未伴有典型的特应性表现和毛干疾病。