Vulasala Sai Swarupa, Robinson Jacob, Sharma Aryan, Wehry Sean, Mohamedahmed Omer, Gopireddy Dheeraj
Diagnostic Radiology, University of Florida College of Medicine - Jacksonville, Jacksonville, USA.
Biology, Creekside High School, St. Johns, USA.
Cureus. 2025 Apr 22;17(4):e82808. doi: 10.7759/cureus.82808. eCollection 2025 Apr.
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.
1型神经纤维瘤病（NF-1）是一种常染色体显性遗传的神经皮肤疾病，其特征为皮肤异常，如牛奶咖啡斑和皮肤褶皱处雀斑，以及周围神经鞘瘤，如神经纤维瘤、施万细胞瘤和各种其他肿瘤。一名有NF-1病史的28岁男性因直肠出血前来我院就诊。随后在结肠镜检查及后续影像学检查中发现直肠肿物。该肿物进行了活检，组织病理学结果与低级别施万细胞瘤一致。施万细胞瘤在NF-1中比在NF-2中少见，但有时确实会发生在NF-1患者中，最常见于颅神经、脊神经或周围神经。这些肿瘤在胃肠道中也很少见，在直肠中更是罕见。对于NF-1患者发现的任何直肠肿物，鉴别诊断时都必须考虑施万细胞瘤，以便对患者进行适当的管理和治疗。
