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Can Neurofibromas Be Misdiagnosed As Vascular Anomalies: A Review Of 129 Patients
Zammerilla LL; Yilmaz S; Ozolek JA; MacIsaac ZM; Crowley JJ; Grunwaldt LJ
Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, PA, USA
2013-02-28
Presenter: Lauren Zammerilla
Affidavit:
This is a clinical review performed by the medical student and the listed physicians at the Children's Hospital of Pittsburgh of UPMC.
Director Name: Joseph E. Losee, MD
Author Category: Medical Student
Presentation Category: Clinical
Abstract Category: General Reconstruction
Background: The initial clinical and imaging presentations of neurofibromas can mimic those of vascular anomalies, particularly if characteristic clinical features of neurofibromatosis are not present. We describe the diagnostic challenges encountered in patients with a histopathologic diagnosis of neurofibroma, which were initially misdiagnosed as vascular anomalies.
Methods: The surgical pathology database at a major Children's Hospital was searched for patients with a histopathologic diagnosis of neurofibroma between 2002 and 2012. The imaging studies, medical records, and clinical photographs were analyzed.
Results: 129 patients were found to have a histopathologic diagnosis of neurofibroma. Of these 129 patients, 5 (3.9 %) were initially misdiagnosed as vascular anomalies. Two of the lesions were misdiagnosed as venous malformations; one as infantile hemangioma; one as non-involuting congenital hemangioma, and one as microcystic lymphatic malformation. Imaging characteristics of the diffuse neurofibroma, including T2 hyper-intensity, diffuse homogenous enhancement, and flow voids within the lesion can be confused with those of infantile and congenital hemangiomas.
Conclusions: Plexiform and diffuse neurofibromas may mimic vascular anomalies in clinical and imaging studies. Delayed diagnosis of neurofibroma may lead to negative outcomes, such as missing the diagnosis of Neurofibromatosis type 1, a genetic disease that has major implications for both the patient and family. In addition, having an undiagnosed neurofibroma increases risk for a malignant peripheral nerve sheath tumor. Early correct diagnosis, therefore, is key, enabling physicians to initiate appropriate management and prevent complications. Diagnostic and surgical teams should be aware of similarities between the presentation of vascular anomalies and neurofibromas.
