Late onset of clinical symptoms and recurrent ecchymotic skin lesions in a 12-year-old girl with a severe double heterozygous protein C deficiency.
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.
Loop
Michèle
M
Hemato-Oncology Unit, Hôpital Universitaire des Enfants, Brussels, Belgium. michele.loop@huderf.be
Ferster
Alina
A
Corazza
Francis
F
Alhenc-Gelas
Martine
M
Demulder
Anne
A
D017668:Age of Onset; D000925:Anticoagulants / Q000009:adverse effects; D002648:Child; D003374:Coumarins / Q000009:adverse effects / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D004438:Ecchymosis / Q000209:etiology*; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D017762:Nadroparin / Q000627:therapeutic use; D009336:Necrosis; D020151:Protein C Deficiency / Q000150:complications* / Q000188:drug therapy / Q000235:genetics*; D012008:Recurrence; D012871:Skin Diseases / Q000139:chemically induced / Q000473:pathology
D000925:Anticoagulants; D003374:Coumarins; D017762:Nadroparin; C030123:coumarin