Retinal hemorrhages in a patient with dyskeratosis congenita

J AAPOS. 2008 Aug;12(4):415-7. doi: 10.1016/j.jaapos.2008.01.016. Epub 2008 May 2.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Transfusion
  • Dyskeratosis Congenita / complications*
  • Dyskeratosis Congenita / diagnosis
  • Dyskeratosis Congenita / therapy
  • Follow-Up Studies
  • Humans
  • Male
  • Retinal Hemorrhage / diagnosis
  • Retinal Hemorrhage / etiology*
  • Retinal Hemorrhage / therapy
  • Visual Acuity
  • Young Adult