Bilateral Localized Orbital Neurofibromas

Background: The authors report on a 30-year-old man who presented with progressive bilateral exophthalmos over a 2-year period. Findings: Computed tomography showed large heterogeneous masses in the superior aspect of both orbits. Excisional biopsy via bilateral lateral orbitotomies showed the tumors to be well-circumscribed, relatively avascular, localized neurofibromas. The patient had several features suggestive of multiple endocrine neoplasia type IIB, including Marfanoid habitus, enlarged corneal nerves, thickened lips, and mucosal neuromas. Conclusion: Localized neurofibromas are rare in the orbit and, unlike plexiform neurofibromas, are not typically associated with von Recklinghausen's neurofibromatosis. Bilaterality of such localized neurofibromas has not been previously reported. Recognition of ophthalmic lesions suggestive of multiple endocrine neoplasia IIB should prompt evaluation for systemic manifestations of this disorder.