Nazir Sayeda, Sayani Namrata, Phillips Paul H
Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
J AAPOS. 2008 Aug;12(4):415-7. doi: 10.1016/j.jaapos.2008.01.016. Epub 2008 May 2.
Dyskeratosis congenita, also referred to as Zinsser-Cole-Engman syndrome, is characterized by reticular skin pigmentation, dystrophic nail changes, and mucosal leukoplakia. Other findings include carious teeth, premature graying of hair, and osteoporosis. Approximately 50% of patients develop pancytopenia. Ophthalmologic manifestations include blepharitis, conjunctivitis, obliteration of the lacrimal puncta, nasolacrimal duct obstruction, ectropion, and loss of eyelashes. We report bilateral retinal hemorrhages from pancytopenia in a patient with dyskeratosis congenita.
先天性角化不良,也称为津瑟-科尔-恩格曼综合征,其特征为网状皮肤色素沉着、甲营养不良性改变和黏膜白斑。其他表现包括龋齿、头发过早变白和骨质疏松。约50%的患者会出现全血细胞减少。眼科表现包括睑缘炎、结膜炎、泪点闭塞、鼻泪管阻塞、睑外翻和睫毛脱落。我们报告了1例先天性角化不良患者因全血细胞减少导致的双侧视网膜出血。