Rare Encounter: Cervical Neurofibroma in Patient with Neurofibromatosis Type 1—A Unique Case Report

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by neurofibromas, optic nerve gliomas, pigmented iris nodules, and cutaneous hyperpigmented macules. Neurofibromas of the female genital tract are rare, with the vulva being the most frequently affected site. Cervical neurofibromas are extremely rare, with only seven cases reported since 1952.

We present the case of a 50-year-old woman with NF1, marked by multiple cutaneous and para-spinal neurofibromas but without café au lait spots. A Pap smear indicated atypical glandular cells favoring neoplasm (AGC-FN), yet clinical examination and colposcopy revealed no visible cervical lesions. A cervical biopsy showed chronic cervicitis. Subsequently, cervical conization was performed, revealing a neurofibroma in the cervix. Immunohistochemistry confirmed the diagnosis with positive S100 staining.

This case highlights the unusual occurrence of a cervical neurofibroma in an NF1 patient, emphasizing the potential, though rare, involvement of the female genital tract in this condition. The diagnostic challenge posed by nonspecific findings on colposcopy and biopsy in such cases underscores the value of thorough histopathologic evaluation.

Cervical neurofibromas are extremely rare in NF1 patients, but this case underscores the need for clinicians to consider genitourinary involvement in NF1, even when initial diagnostic assessments appear unremarkable.