Evaluation of plexiform neurofibroma in neurofibromatosis type 1 in 18 family members of 3 generations: ultrasonography and magnetic resonance imaging a diagnostic supplement

Abstract

Plexiform neurofibroma in neurofibromatosis type 1, an autosomal-dominant genetic disorder, is characterized by a combination of interlacing components or a network. The prominent enlargement of a nerve with tumor nodules results in the gross pathologic appearance termed "bag of worms." Plexiform neurofibroma was found in two of seven family members with neurofibromatosis type 1 in three generations. Ultrasonography/color doppler and magnetic resonance imaging, in addition to microscopic pathology, were used as diagnostic tools, and their indications for future use in the diagnosis of plexiform neurofibroma are highlighted.

Giant Neurofibroma in the Right Lower Limb of a 26-Year-Old Woman: Report of a Case

“…When the nodules spread over the entire body, it is called NF. 4 The present patient fit well the diagnostic criteria for NF (i.e., many neurofibromas of varying sizes throughout the body, skin pigmentation, many light brown spots, and several family members showing similar symptoms). 5 In addition, the lumps appear primarily among young and middle-aged people.…”

Solitary Intraparotid Facial Nerve Plexiform Neurofibroma

“…Loss of function is possible due to neurovascular involvement with nerve compression [13]. In general, plexiform neurofibromas cause diffuse nodular enlargement of a nerve and its branches by a proliferation of Schwann cells in the nerve sheath across the length of a nerve [10].…”

A rare location for an infrequent tumor: Plexiform neurofibroma in hepatic hilum

“…PN is characterized with tumoral enlargement in a long nerve segment with nodular components resulting in the gross pathologic appearance resembling "bag of worms" 12,13 . It is often difficult for a correct diagnosis to be made before surgical procedure because there are no characteristic clinical and laboratory findings, including tumor markers and imaging methods that distinguish PN from other neoplasms 14,15 .…”