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

par Loop, Michèle ;Ferster, Alina ;Corazza, Francis ;Alhenc-Gelas, Martine;Demulder, Anne
Référence Journal of pediatric hematology/oncology, 26, 1, page (2-4)
Publication Publié, 2004-01

Article révisé par les pairs

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Résumé :

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.