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Anterior vaginal wall neurofibroma in neurofibromatosis type 1 causing lower urinary tract symptoms
Marla Vera Rubio Martinquilla1, Lisa T Prodigalidad-Jabson2, Almira J Amin-Ong2
1Division of Urogynecology and Pelvic Reconstructive Surgery, University of the Philippines-Philippine General Hospital Department of Obstetrics and Gynecology, Manila, NCR, Philippines marlamartinquilla@gmail.com.
Abstract:
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 year follow-up. This case emphasises the importance of considering NF1 in atypical genitourinary presentations and supports surgical excision for symptom resolution and definitive diagnosis.
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