1. History
  2. Exam
  3. Photos
  4. Diagnosis
  5. Teaching Points
  6. Comments

Case 96 Teaching Points

  • Systemic findings:
    • Yellow, papular (“plucked-chicken” appearance) skin lesion
    • Gastrointestinal bleeding
    • Cardiac disease
  • Ophthalmic findings:
    • Optic disc drusen (21% of cases)
    • Peau d’orange” fundus
    • Angioid streaks: breaks in Bruch’s membrane
    • Choroidal neovascular membrane
  • Majority of cases are sporadic. In familial cases, autosomal recessive inheritance is common.
  • Mutations in ABCC6 gene on chromosome 16

References

Hu X, Plomp AS, van Soest S, Wijnholds J, de Jong PTVM, Bergen AAB. Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update. Surv Ophthamol 2003;48:424-438.

Last Modified: Tuesday, 05-Aug-2008 12:06:40 EDT