{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T06:40:03Z","timestamp":1756276803420,"version":"3.44.0"},"reference-count":9,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,7,2]]},"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:p>Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder primarily affecting the skin, nervous and skeletal systems. Vaginal involvement is exceptionally uncommon. We present a case of a woman in her 60s with NF1 who developed a neurofibroma in the anterior vaginal wall, accompanied by lower urinary tract symptoms including urgency and urge incontinence. Imaging and cystourethroscopy guided the diagnosis. The mass was excised and histopathology confirmed neurofibroma through S100 and SOX10 positivity. The patient experienced significant symptomatic improvement postoperatively and no recurrence was observed at 1\u2009year follow-up. This case emphasises the importance of considering NF1 in atypical genitourinary presentations and supports surgical excision for symptom resolution and definitive diagnosis.<\/jats:p>","DOI":"10.1136\/bcr-2025-267488","type":"journal-article","created":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T01:20:25Z","timestamp":1753060825000},"page":"e267488","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Anterior vaginal wall neurofibroma in neurofibromatosis type 1 causing lower urinary tract symptoms"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-6481-3207","authenticated-orcid":false,"given":"Marla Vera Rubio","family":"Martinquilla","sequence":"first","affiliation":[{"name":"Division of Urogynecology and Pelvic Reconstructive Surgery, University of the Philippines-Philippine General Hospital Department of Obstetrics and Gynecology, Manila, NCR, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa T","family":"Prodigalidad-Jabson","sequence":"additional","affiliation":[{"name":"Division of Urogynecology and Pelvic Reconstructive Surgery, University of the Philippines-Philippine General Hospital Department of Obstetrics and Gynecology, Manila, NCR, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Almira J","family":"Amin-Ong","sequence":"additional","affiliation":[{"name":"Division of Urogynecology and Pelvic Reconstructive Surgery, University of the Philippines-Philippine General Hospital Department of Obstetrics and Gynecology, Manila, NCR, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,7,20]]},"reference":[{"key":"2025082623072229000_18.7.e267488.1","doi-asserted-by":"crossref","first-page":"1708","DOI":"10.1016\/j.humpath.2008.02.019","article-title":"Diffuse ganglioneuromatosis and plexiform neurofibroma of the urinary bladder: report of a pediatric example and literature review","volume":"39","author":"Scheithauer","year":"2008","journal-title":"Hum Pathol"},{"key":"2025082623072229000_18.7.e267488.2","first-page":"42","article-title":"Vaginal leiomyoma","volume":"2","author":"Chakrabarti","year":"2011","journal-title":"J Midlife Health"},{"key":"2025082623072229000_18.7.e267488.3","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1007\/s00404-010-1575-1","article-title":"Aggressive angiomyxoma of vulva and vagina: a series of three cases and review of literature","volume":"283","author":"Dahiya","year":"2011","journal-title":"Arch Gynecol Obstet"},{"key":"2025082623072229000_18.7.e267488.4","first-page":"281","article-title":"Neurofibromatosis type 1: Genetics and clinical features","volume":"11","author":"Viskochil","year":"2001","journal-title":"Curr Opin Genet Dev"},{"key":"2025082623072229000_18.7.e267488.5","first-page":"49","article-title":"Isolated vaginal neurofibroma presenting as vaginal wall cyst: a rare case report with review of literature","volume":"10","author":"Nibhoria","year":"2016","journal-title":"J Fam Reprod Health"},{"key":"2025082623072229000_18.7.e267488.6","first-page":"101211","article-title":"A large bladder leiomyoma","volume":"32","author":"Pramod","year":"2020","journal-title":"Urol Case Rep"},{"key":"2025082623072229000_18.7.e267488.7","doi-asserted-by":"publisher","DOI":"10.1136\/jclinpath-2019-206261"},{"key":"2025082623072229000_18.7.e267488.8","doi-asserted-by":"crossref","first-page":"e49","DOI":"10.1016\/j.urology.2020.03.030","article-title":"Co-Manifestations of Genital Neurofibromatosis in a Patient with Neurofibromatosis Type 1","volume":"141","author":"Ku","year":"2020","journal-title":"Urology"},{"key":"2025082623072229000_18.7.e267488.9","doi-asserted-by":"publisher","DOI":"10.1038\/s41388-022-02290-1"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-267488","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T06:07:29Z","timestamp":1756274849000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-267488"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":9,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2025,7,20]]},"published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1136\/bcr-2025-267488"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-267488","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,7]]}}}