Juvenile pseudoxanthoma elasticum: recognition and management

Pediatr Dermatol. 1993 Mar;10(1):19-25. doi: 10.1111/j.1525-1470.1993.tb00005.x.

Abstract

An 8-year-old girl had pseudoxanthoma elasticum (PXE) with the characteristic skin and ocular findings. She had no associated systemic symptoms and no family history of PXE. The disease was most likely inherited in an autosomal recessive fashion. It is reviewed with regard to etiology, inheritance, diagnosis, and, particularly, management.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Biopsy
  • Child
  • Female
  • Humans
  • Pseudoxanthoma Elasticum / complications
  • Pseudoxanthoma Elasticum / diagnosis*
  • Pseudoxanthoma Elasticum / genetics
  • Pseudoxanthoma Elasticum / therapy
  • Retinal Diseases / etiology
  • Skin / pathology
  • Vascular Diseases / etiology