Giant gluteal and vesical plexiform neurofibromas in a patient with neurofibromatosis type 1: a case report.

J Med Case Rep

Surgical Oncology Department, Salah Azaiez Institute of Oncology, Faculty of Medicine of Tunis, Tunis El Manar University, Tunis, Tunisia.

Published: January 2024

Background: Neurofibromatosis type 1 is a neurocutaneous genetic disorder caused by mutations in the NF1 gene, resulting in the formation of benign tumors called neurofibromas. The most common type of tumor seen in patients with neurofibromatosis type 1 is the slow-growing and benign neurofibroma, with a subtype called plexiform neurofibroma being particularly common and causing pain, functional impairment, and cosmetic disfigurement.

Case Presentation: We report the case of a 20-year-old North African female patient with a history of neurofibromatosis type 1 who presented with a growing mass in her right gluteal region, which was later diagnosed as a giant cutaneous neurofibroma. Imaging studies revealed infiltration in several regions, including the urinary bladder wall, resulting in significant bilateral hydronephrosis. The patient is currently being monitored, and no excisional procedures are planned.

Conclusions: Neurofibromatosis type 1 can cause a variety of clinical symptoms, including the development of large plexiform neurofibromas. It is important to closely monitor patients with neurofibromatosis type 1 for the early detection of neurofibromas. Early detection and prompt surgical intervention are essential for preventing complications.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10787472PMC
http://dx.doi.org/10.1186/s13256-023-04315-zDOI Listing

Publication Analysis

Top Keywords

neurofibromatosis type
24
plexiform neurofibromas
8
patients neurofibromatosis
8
early detection
8
type
7
neurofibromatosis
6
giant gluteal
4
gluteal vesical
4
vesical plexiform
4
neurofibromas
4

Similar Publications

Background: Neurofibromatosis type 1 (NF1) is a rare genetic disorder affecting multiple bodily systems that predisposes to the development of tumors. It affects approximately 1 in 3000 newborns in Germany. Its clinical manifestations are diverse and complex, and its diagnostic and therapeutic management call for specialized knowledge and experience.

View Article and Find Full Text PDF

Neurofibromatosis type 1 (NF1) significantly increases the risk of malignant peripheral nerve sheath tumors (MPNST), a rare and aggressive malignancy for which treatment is clinically challenging. This paper presents the case of a 24-year-old male with an NF1 who developed MPNST with lung metastases. Due to the limited effectiveness of systemic therapy in the treatment of MPNST, the patient underwent radical surgical resection and radiotherapy.

View Article and Find Full Text PDF

Rasopathies, including Noonan Syndrome (NS) and Neurofibromatosis type 1 (NF1), are developmental disorders caused by germline mutations in genes of the RAS/mitogen-activated protein kinase pathway (RAS-MAPK). This study investigates irritability, a highly prevalent transdiagnostic construct, in children with Rasopathies and the impact of Rasopathy status on the associations between irritability, emotional dysregulation-related disorders, and social skills impairments. The sample comprise 174 children aged 4-17 (age mean = 9.

View Article and Find Full Text PDF

Selumetinib in adults with NF1 and inoperable plexiform neurofibroma: a phase 2 trial.

Nat Med

January 2025

Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

The MEK inhibitor selumetinib induces objective responses and provides clinical benefit in children with neurofibromatosis type 1 (NF1) and inoperable plexiform neurofibromas (PNs). To evaluate whether similar outcomes were possible in adult patients, in whom PN growth is generally slower than in pediatric patients, we conducted an open-label phase 2 study of selumetinib in adults with NF1 PNs. The study was designed to evaluate objective response rate (primary objective), tumor volumetric responses, patient-reported outcomes and pharmacodynamic effects in PN biopsies.

View Article and Find Full Text PDF

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic multisystem phakomatosis that can affect the skin, bones, and nervous system. NF1 typically presents with skin lesions, including freckles, café-au-lait macules, plexiform neurofibromas, and bony dysplasia, and is usually accompanied by a family history of the disorder. Ocular manifestations vary, but iris Lisch nodules and optic nerve gliomas are the most common features.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!