{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T06:42:05Z","timestamp":1763534525049,"version":"3.45.0"},"reference-count":16,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>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 caf\u00e9-au-lait spots, scoliosis, and multiple subcutaneous nodules on the head, trunk, and limbs. Imaging and histopathological analysis identified these nodules as neurofibromas, fulfilling the diagnostic criteria for NF1. Key features of this case include the steroid-dependent nature of the UC, which significantly improved with the combination therapy of vedolizumab and SFEC, as well as the presence of neurofibromas affecting the intestines and greater omentum. Furthermore, colonic ulcers and polypoid lesions may have been linked to the neurofibromas, while histopathological findings in both skin and intestinal tissues indicated the involvement of mast cells. This case illustrates the intricate relationship between UC and NF1, supporting a common inflammatory mechanism that may involve mast cells.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case highlights the importance of clinicians being aware of the rare coexistence of UC and NF1 to ensure accurate diagnosis and appropriate management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fmed.2025.1723026","type":"journal-article","created":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T06:37:24Z","timestamp":1763534244000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Coexistence of ulcerative colitis and neurofibromatosis type 1: a case report and literature review"],"prefix":"10.3389","volume":"12","author":[{"given":"Xiuqiang","family":"Huang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuhua","family":"Lyu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiming","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luyao","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manyi","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,11,19]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"64","DOI":"10.4103\/ant.ANT-D-24-00042","article-title":"Recent advancement of neurofibromatosis type 1: a narrative review.","volume":"34","author":"Huang","year":"2025","journal-title":"Acta Neurol Taiwan."},{"key":"B2","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1007\/s00401-019-02002-2","article-title":"An update on the central nervous system manifestations of neurofibromatosis type 1.","volume":"139","author":"Nix","year":"2020","journal-title":"Acta Neuropathol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1093\/oxfordjournals.aje.a010118","article-title":"NF1 gene and neurofibromatosis 1.","volume":"151","author":"Rasmussen","year":"2000","journal-title":"Am J Epidemiol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1016\/j.ad.2016.01.004","article-title":"An update on neurofibromatosis type 1: not just caf\u00e9-au-lait spots, freckling, and neurofibromas. An update. Part I. dermatological clinical criteria diagnostic of the disease.","volume":"107","author":"Hern\u00e1ndez-Mart\u00edn","year":"2016","journal-title":"Actas Dermosifiliogr."},{"key":"B5","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1016\/j.ad.2016.01.009","article-title":"An update on neurofibromatosis type 1: not just caf\u00e9-au-lait spots and freckling. Part II. Other skin manifestations characteristic of NF1. NF1 and Cancer.","volume":"107","author":"Hern\u00e1ndez-Mart\u00edn","year":"2016","journal-title":"Actas Dermosifiliogr."},{"key":"B6","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1016\/s0140-6736(23)00966-2","article-title":"Ulcerative colitis.","volume":"402","author":"Le Berre","year":"2023","journal-title":"Lancet."},{"key":"B7","doi-asserted-by":"publisher","first-page":"892","DOI":"10.1016\/j.tips.2024.08.003","article-title":"Ulcerative colitis: clinical biomarkers, therapeutic targets, and emerging treatments.","volume":"45","author":"Wangchuk","year":"2024","journal-title":"Trends Pharmacol Sci."},{"key":"B8","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1186\/s43556-024-00207-w","article-title":"Ulcerative colitis: molecular insights and intervention therapy.","volume":"5","author":"Liang","year":"2024","journal-title":"Mol Biomed."},{"key":"B9","doi-asserted-by":"publisher","first-page":"e20150973","DOI":"10.1542\/peds.2015-0973","article-title":"Concurrent ulcerative colitis and neurofibromatosis type 1: the question of a common pathway.","volume":"137","author":"Adams","year":"2016","journal-title":"Pediatrics."},{"key":"B10","doi-asserted-by":"publisher","first-page":"727","DOI":"10.32641\/andespediatr.v93i5.4177","article-title":"[Concomitant ulcerative colitis and neurofibromatosis type 1: possible common origin?].","volume":"93","author":"Morales","year":"2022","journal-title":"Andes Pediatr."},{"key":"B11","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1016\/j.yexmp.2014.02.006","article-title":"Do mast cells play a pathogenetic role in neurofibromatosis type 1 and ulcerative colitis?","volume":"96","author":"Baratelli","year":"2014","journal-title":"Exp Mol Pathol."},{"key":"B12","doi-asserted-by":"publisher","first-page":"25","DOI":"10.2739\/kurumemedj.MS00014","article-title":"A rare case of ulcerative colitis with neurofibromatosis type 1.","volume":"64","author":"Fukunaga","year":"2017","journal-title":"Kurume Med J."},{"key":"B13","first-page":"119","article-title":"Crohn\u2019s disease in a patient with von Recklinghausen\u2019s disease: a rare combination of two disorders with strong genetic background.","volume":"22","author":"Triantafillidis","year":"2009","journal-title":"Ann Gastroenterol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"e00605","DOI":"10.14309\/crj.0000000000000605","article-title":"Inflammatory bowel disease and primary sclerosing cholangitis in a pediatric patient with neurofibromatosis type 1.","volume":"8","author":"Lehan","year":"2021","journal-title":"ACG Case Rep J."},{"key":"B15","doi-asserted-by":"publisher","first-page":"598","DOI":"10.3969\/j.issn.1006-5709.2018.05.029","article-title":"Ulcerative colitis with neurofibromatosis type 1: one case report and literature reviews.","volume":"27","author":"Song","year":"2018","journal-title":"Chin J Gastroenterol Hepatol."},{"key":"B16","doi-asserted-by":"publisher","first-page":"261","DOI":"10.4103\/0022-3859.57396","article-title":"Ulcerative colitis and neurofibromatosis type 1 with bilateral psoas muscle neurofibromas: a case report.","volume":"14","author":"Tavakkoli","year":"2009","journal-title":"J Res Med Sci."}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2025.1723026\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T06:37:25Z","timestamp":1763534245000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2025.1723026\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,19]]},"references-count":16,"alternative-id":["10.3389\/fmed.2025.1723026"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2025.1723026","relation":{},"ISSN":["2296-858X"],"issn-type":[{"value":"2296-858X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,19]]},"article-number":"1723026"}}