Unveiling the Rare: A Case Report of Rectal Schwannoma in a Neurofibromatosis Type 1 Patient
Year: 2025
Type: article
Study design: Case Report
Abstract: Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous disorder characterized by skin abnormalities, such as café-au-lait macules and skinfold freckling, as well as peripheral nerve sheath tumors such as neurofibromas, schwannomas, and various other tumors. A 28-year-old man with a history of NF-1 presented to our facility with rectal bleeding. A rectal mass was subsequently discovered on colonoscopy and subsequent imaging. This mass was biopsied with histopathology consistent with a low-grade schwannoma. Schwannomas, while less common in NF-1 than NF-2, do sometimes occur in NF-1 patients, most commonly along the cranial, spinal, or peripheral nerves. These tumors also rarely occur in the gastrointestinal tract and even more rarely within the rectum specifically. Schwannoma must be considered in the differential for any rectal mass discovered in a patient with NF-1, so that the patient can be appropriately managed and treated.
Source: Cureus
DOI: 10.7759/cureus.82808
Authors: Sai Swarupa Vulasala, Jacob Robinson, Aryan Sharma, Sean Wehry, Omer Mohamedahmed, Dheeraj Gopireddy
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4409668666