Plexiform neurofibroma is a pathognomonic, often disabling feature of neurofibromatosis type I. Although the target-like appearance of deep plexiform neurofibroma on T2-weighted MRI has been well-described, a second superficial form of plexiform neurofibroma has differing imaging features. We report a 15-year-old boy who presented with multiple cutaneous lesions exhibiting clinical and imaging characteristics of a venolymphatic malformation. These lesions were histologically proved to represent superficial plexiform neurofibromas. We wish to emphasize the unique MR findings of superficial plexiform neurofibromas; these findings are different from the imaging characteristics of the deep form and can be confused with a low-flow vascular malformation.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1007/s00247-005-1565-9 | DOI Listing |
Biomed Rep
February 2025
Department of Breast Surgery, Affiliated Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang Uyghur Autonomous Region 830000, P.R. China.
Neurofibromatosis type 1 (NF1), which is also known as von Recklinghausen's disease, is a multisystem genetic disease that is principally associated with cutaneous, neurologic and orthopedic manifestations. The present case report described an unusual case with a giant cutaneous neoplasm on the right breast skin of a 36-year-old female who was admitted to the Department of Breast Surgery at the Affiliated Tumor Hospital of Xinjiang Medical University (Urumqi, China). Skin mass excision was performed and histopathology confirmed the diagnosis of thoracic plexiform neurofibroma as a primary presentation of NF1.
View Article and Find Full Text PDFAnticancer Res
December 2024
Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Background/aim: Plexiform neurofibromas are the hallmark of neurofibromatosis type 1, an autosomal dominantly inherited multisystem disorder. Spinal plexiform neurofibromas can particularly cause severe neurological symptoms. Treatment options are limited due to invasive growth, and targeted therapy with selumetinib is only approved for inoperable tumors in children.
View Article and Find Full Text PDFRadiol Case Rep
January 2025
Department of Radiology National Institute of Oncology, University Mohammed V of Rabat, Rabat, Morocco.
Plexiform neurofibroma is characterized by diffuse intraneural neoplastic overgrowth involving a long nerve segment, with tortuous expansion of its branches. It is a hallmark of Neurofibromatosis Type 1 (NF1). We report the case of a 36-year-old man with a known diagnosis of NF1, who was admitted for chronic posterior cervical pain and cervicobrachial neuralgia.
View Article and Find Full Text PDFNeurooncol Adv
October 2024
Department of Oncology, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal.
Background: Neurofibromatosis type 1 (NF1) is a common genetic disorder of phenotypic variability with age-dependent penetrance. This study describes the diagnosis, clinical characterization, management, and outcomes of a large patient cohort with plexiform neurofibroma (PN) treated with selumetinib in a real-world clinical setting.
Methods: This single-center observational study consecutively enrolled patients with NF1-PN treated with selumetinib from April 2018 to 2023.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!