Pseudotumor of the Mandible as First Presentation of Hemophilia in a 2-Year-Old Male: A Case Report and Review of Jaw Pseudotumors of Hemophilia

Pseudotumor of hemophilia (PTH) is a rare complication seen in approximately 1–2% of cases of hemophilia. Although much more common in long bones, the pelvis, and small bones of the hands and feet than in the jaws, occasionally hemorrhage in the jaws occurs with this result. We present a case in a two-year-old male with a one-month swelling of the right mandible without significant medical history or diagnosis of hemophilia who was subsequently diagnosed as having Factor IX deficiency, or hemophilia B. A review of the literature revealed only 15 reported cases of PTH of the jaws and salient features of PTH in the jaws are discussed. The differential diagnosis of masses occurring in the jaws of children is limited and PTH should be considered when a mass presents with rapid growth and the histopathologic features are not diagnostic for a neoplastic process, even in the absence of a prior diagnosis of hemophilia as PTH may be the initial manifestation of this disease.