Plexiform neurofibromas in neurofibromatosis type 1

Abstract

Plexiform neurofibroma developing in neurofibromatosis type 1 is a fascinating overture whereby diagnosis is primarily based on clinical characteristics, the details of which are outlined. Nonetheless, it is imperative to establish a clear-cut clinical status vis-á-vis the adjoining tissues. Magnetic resonance imaging (MRI) may provide an additional supplement to the diagnosis and an aid to further management of the condition.

Elephantiasis neuromatosa in Type 1 Neurofibromatosis

“…Plexiform neurofibromas are indeed diagnostic of NF-1 and represent a major cause of morbidity and mortality. They are found in 30-50% of NF-1 patients, appear in childhood and carry a risk of malignancy estimated around 5-10% [2,3]. Herein, we reported an interesting case of a particularly aggressive neurofibroma that resulted in lower extremity gigantism; this form of plexiform neurofibromas, called elephantiasis neuromatosa (EN) is rarely described.…”

“…MRI findings include the typical targetoid images seen on T2W/STIR sequence [4]. Pathological findings include thickened nerve fascicules with myxoid stroma and fibroblast cords interlaced with Schwann cells [3]. The mainstay of treatment is surgery with high risk of bleeding and recurrence [4].…”

Neurofibroma plexiforme gigante da região lombar com transformação hemorrágica – Relato de caso

“…A NF tipo 1 é causada por uma mutação no gene que codifica a neurofibromina, o qual se localiza no braço longo do cromossomo 17. 4 A neurofibromina está presente em neurônios, oligodendrócitos e células de Schwann. Sua principal função é a de inativar a enzima RAS-GTP e suas vias de transdução de sinal.…”

Plexiform neurofibromatosis

“…Positron Emission Tomography scan may be used to exclude malignancy along with Magnetic Resonance Imaging to define such tumors. [3]…”