A case of suspected spontaneous thigh hematoma in a patient with neurofibromatosis 1

Abstract

Neurofibromatosis type 1 (NF-1aa Neurofibromatosis type 1) is an autosomal dominant mutation on chromosome 17q11.2 which causes downregulation of the ras tumor suppressor oncogene as well as alteration in the production of the protein neurofibromin. These genetic changes commonly lead to unique phenotypes of neurofibromas, Lisch nodules, axillary freckling, and café au lait spots. Uncommonly seen in this condition are vascular anomalies leading to spontaneous hemorrhages. We present the case of a spontaneous thigh hematoma in a patient with NF-1. Since intra-operative findings did not reveal any obvious arterio-venous malformations, it was determined that the patient likely had arterial dysplasia with resultant rupture secondary to nearby invasion of a neurofibroma.

Keywords

• Neurofibromatosis type 1
• Hemorrhage
• Spontaneous
• Extremity
• Vascular surgery