TY - JOUR
T1 - Maxillary pseudotumor as initial manifestation of von Willebrand disease, type 2
T2 - Report of a rare case and literature review
AU - Argyris, Prokopios P.
AU - Anim, Samuel O.
AU - Koutlas, Ioannis G.
N1 - Publisher Copyright:
© 2016 Elsevier Inc.
PY - 2016/2/1
Y1 - 2016/2/1
N2 - Objectives Von Willebrand disease (VWD) is a bleeding disorder associated with inherited defects of von Willebrand factor (VWF). Type 2 N VWD is characterized by impaired FVIII-binding capacity (VWF:FVIIIB). Pseudotumor (PT) represents a serious complication of hemophilia. Case reports of oral PTs in VWD remain scarce. Methods An 11-year-old Caucasian female presented with an expansile gingival mass of the posterior maxilla. Surgical excision of the tumor was performed. Results Histopathologically, the tumor was characterized by cystic spaces filled with hemorrhagic material and dense fibrous connective tissue. Postoperatively, the patient suffered prolonged hemorrhage. Results of blood tests showed decreased levels of FVIII function (FVIII:C) and VWF:FVIIIB. Subsequent gene analysis for type 2 N VWD confirmed heterozygosity for the missense mutation p.Arg816 Trp. A diagnosis of oral PT was rendered. Conclusions Here, we report the clinical, radiographic, and microscopic features of a rare example of oral PT leading to the diagnosis of type 2 N VWD.
AB - Objectives Von Willebrand disease (VWD) is a bleeding disorder associated with inherited defects of von Willebrand factor (VWF). Type 2 N VWD is characterized by impaired FVIII-binding capacity (VWF:FVIIIB). Pseudotumor (PT) represents a serious complication of hemophilia. Case reports of oral PTs in VWD remain scarce. Methods An 11-year-old Caucasian female presented with an expansile gingival mass of the posterior maxilla. Surgical excision of the tumor was performed. Results Histopathologically, the tumor was characterized by cystic spaces filled with hemorrhagic material and dense fibrous connective tissue. Postoperatively, the patient suffered prolonged hemorrhage. Results of blood tests showed decreased levels of FVIII function (FVIII:C) and VWF:FVIIIB. Subsequent gene analysis for type 2 N VWD confirmed heterozygosity for the missense mutation p.Arg816 Trp. A diagnosis of oral PT was rendered. Conclusions Here, we report the clinical, radiographic, and microscopic features of a rare example of oral PT leading to the diagnosis of type 2 N VWD.
UR - http://www.scopus.com/inward/record.url?scp=84955347097&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84955347097&partnerID=8YFLogxK
U2 - 10.1016/j.oooo.2015.05.018
DO - 10.1016/j.oooo.2015.05.018
M3 - Article
C2 - 26210168
AN - SCOPUS:84955347097
SN - 2212-4403
VL - 121
SP - e27-e31
JO - Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
JF - Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
IS - 2
ER -