Coexistence of ulcerative colitis and neurofibromatosis type 1: a case report and literature review.

ABSTRACT:

Background

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder resulting from mutations in the NF1 gene, while ulcerative colitis (UC) is a chronic inflammatory disease of the intestines with an unclear etiology. Herein, we report a case involving an elderly male patient with both UC and NF1.

Case presentation

The patient experienced chronic diarrhea and mucopurulent bloody stools, leading to a confirmed diagnosis of UC through colonoscopy and histopathological examination. Treatment with corticosteroids, vedolizumab, and five-flavor sophora flavescens enteric-coated capsules (SFEC), a traditional Chinese medicine, successfully achieved remission. During the physical examination, the patient exhibited axillary café-au-lait spots, scoliosis, and multiple

SUBMITTER: Huang X 

PROVIDER: S-EPMC12672877 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature