An unusual plexiform neurofibroma confused with a vascular malformation: A case report

Claudio Spinelli,Silvia Strambi

doi:10.5348/101028z01cs2019cr

Abstract

Introduction: Neurofibromatosis type I, or Von Recklinghausen disease, is a multisystem disorder that primarily involves the skin and nervous system. Plexiform neurofibromas are one of the most pathognomonic and often the most disabling feature of the disease; generally benign, these lesions might degenerate into neurofibrosarcoma. They grow along peripheral nerves, and can be divided, on histological and biological bases, into two different groups: nodular / mass neurofibromas and Plexiform neurofibromas (superficial and deep). Despite the unique appearance of deep plexiform neurofibroma, especially on T2-weghted MRI, cutaneous and subcutaneous forms are more difficult to diagnose. The imaging findings of the superficial forms are different from the imaging characteristics of the deeper lesions and can be confused with a low-flow vascular malformation.

Highlights

INTRODUCTIONIts mortality and morbidity rates depend on proliferation and location, as well as growth in size and potential for malignant degeneration of the lesion [1,2,3,4]
Neurofibromatosis type I, or Von Recklinghausen disease, is a multisystem disorder that primarily involves the skin and nervous system
They are composed by the same elements that compose peripheral nerves, including axons, fibroblasts and Schwann cells being the most significant (60%) [8,9,10]

Summary

INTRODUCTION

Its mortality and morbidity rates depend on proliferation and location, as well as growth in size and potential for malignant degeneration of the lesion [1,2,3,4] Based on their histological and radiologic appearance, neurofibromas can be divided into two large groups: discrete mass / nodular forms and diffuse / plexiform variety, which is the most common [5,6,7]. Because of the presence of numerous branches (Figure 1), the excision needed to be broadened in order for the lesion to be completely removed This macroscopic feature, enhanced by the previous NF - I diagnosis, triggered the suspicion for neurofibroma: the post-operative histological examination proved to be a superficial (subcutaneous) plexiform neurofibroma. No local recurrence occurred after a 24 months follow-up

DISCUSSION

Findings

CONCLUSION