High-risk human papillomavirus (HPV) is prevalent and known to cause 5% of all cancers worldwide. The rare, cancer prone Fanconi anemia (FA) population is characterized by a predisposition to both head and neck squamous cell carcinomas and gynecological cancers, but the role of HPV in these cancers remains unclear. Prompted by a patient-family advocacy organization, oral HPV and HPV serological studies were simultaneously undertaken. Oral DNA samples from 201 individuals with FA, 303 unaffected family members, and 107 unrelated controls were tested for 37 HPV types. Serum samples from 115 individuals with FA and 55 unrelated controls were tested for antibodies against 9 HPV types. Oral HPV prevalence was higher for individuals with FA (20%) versus their parents (13%; p = 0.07), siblings (8%, p = 0.01), and unrelated controls (6%, p ≤ 0.001). A FA diagnosis increased HPV positivity 4.84-fold (95% CI: 1.96–11.93) in adjusted models compared to unrelated controls. Common risk factors associated with HPV in the general population did not predict oral positivity in FA, unlike unrelated controls. Seropositivity and anti-HPV titers did not significantly differ in FA versus unrelated controls regardless of HPV vaccination status. We conclude that individuals with FA are uniquely susceptible to oral HPV independent of conventional risk factors.
Objectives: To report a rare case of idiopathic intracranial hypertension (IIH) presenting with hemifacial spasm (HFS) and review the current literature. Methods: Case report and literature review. The patient’s medical record was reviewed for demographic and clinical data. For literature review, all case reports or other publications published in English literature were identified using PUBMED. Results: A 43-year-old obese female presented with a 2-year history of left HFS. Electroencephalography and head computed tomography were unremarkable. Magnetic resonance imaging demonstrated bilateral anterior inferior cerebellar artery vascular loops involving the internal auditory canals as well as IIH-associated findings. A lumbar puncture was performed and revealed an elevated opening pressure of 26 cm H20 cerebrospinal fluid. Acetazolamide treatment was then initiated, resulting in complete resolution of the HFS. Conclusion: HFS may be a rare presenting manifestation of IIH, and treatment of IIH may result in improvement of HFS symptoms. This is the first report of IIH presenting with HFS in the absence of headache or visual change. As a result, this is the first report of HFS as a presenting manifestation of IIH in Otolaryngology literature.
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