Heterozygous protein C deficiency associated with multiple congenital hemangiomas--a case report.
Congenital protein C deficiency is described as associated with recurrent thrombotic manifestations. The proband, a fourteen-year-old female, has a history of severe and frequent thrombotic disease, moreover, she presents congenital multiple hemangiomas. Family history was positive for protein C deficiency since the mother of the proposita is also affected and has manifested deep venous thrombophlebitis. Two additional relatives on the maternal side were not available for study but were reported to be symptomatic. None of the family members presented angiomatosis. This case report represents the first description of the association of protein C deficiency with multiple hemangiomas.
Simioni
P
P
Second Department of Medicine, University of Padua Medical School, Italy.
Zanon
G
G
Lazzaro
A R
AR
Patrassi
G M
GM
Girolami
A
A
D000293:Adolescent; D005260:Female; D006391:Hemangioma / Q000150:complications / Q000151:congenital*; D006579:Heterozygote; D006801:Humans; D009378:Neoplasms, Multiple Primary / Q000151:congenital*; D011486:Protein C / Q000235:genetics; D020151:Protein C Deficiency; D012008:Recurrence; D012878:Skin Neoplasms / Q000150:complications / Q000151:congenital*; D013924:Thrombophlebitis / Q000150:complications* / Q000235:genetics
D011486:Protein C