Late onset of clinical symptoms and recurrent ecchymotic skin lesions in a 12-year-old girl with a severe double heterozygous protein C deficiency

J Pediatr Hematol Oncol. 2004 Jan;26(1):2-4. doi: 10.1097/00043426-200401000-00002.

Abstract

The authors describe a 12-year-old girl with late-onset clinical symptoms due to severe protein C deficiency. Protein C gene analysis showed double heterozygosity for two distinct mutations, associated with type I protein C deficiency. Her parents and only brother were also evaluated. Coumarin-induced skin necrosis was a recurrent feature during oral anticoagulation therapy, forcing her physicians to treat her with nadroparin (Fraxiparin) for only a few months.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Anticoagulants / adverse effects
  • Child
  • Coumarins / adverse effects
  • Coumarins / therapeutic use
  • DNA Mutational Analysis
  • Ecchymosis / etiology*
  • Family Health
  • Female
  • Heterozygote
  • Humans
  • Mutation, Missense
  • Nadroparin / therapeutic use
  • Necrosis
  • Protein C Deficiency / complications*
  • Protein C Deficiency / drug therapy
  • Protein C Deficiency / genetics*
  • Recurrence
  • Skin Diseases / chemically induced
  • Skin Diseases / pathology

Substances

  • Anticoagulants
  • Coumarins
  • Nadroparin
  • coumarin