| Literature DB >> 18455938 |
Sayeda Nazir1, Namrata Sayani, Paul H Phillips.
Abstract
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.Entities:
Mesh:
Year: 2008 PMID: 18455938 DOI: 10.1016/j.jaapos.2008.01.016
Source DB: PubMed Journal: J AAPOS ISSN: 1091-8531 Impact factor: 1.220