Subconjunctival Juvenile Xanthogranuloma Involving the Limbus Associated with Neurofibromatosis

ABSTRACT

PURPOSE: To report a case of isolated subconjunctival juvenile xanthogranuloma invading the corneal limbus in a patient with neurofibromatosis. METHODS: A 2-year-old boy visited the hospital with a conjunctival yellow-brown, non-tender mass of the left eye, which had been found 2 months earlier. Anterior segment examination revealed a 9 x 7 mm-sized subconjunctival elevated mass with an ill-defined border, invading the supero-temporal limbus. Additional ophthalmic examinations did not show any abnormal findings. In the trunk and extremities, there were multiple soft nodules and brown macules. An excisional biopsy of the subconjunctival mass, histopathologic and immunohistochemical examinations were performed. RESULTS: The mass was adhered to the episcleral tissue, without scleral or conjunctival involvement. The histological examination showed a granulomatous lesion consisting of multiple lipid-laden macrophages and other inflammatory cells. The immunohistochemical study showed positive staining for CD68 and negative staining for S100 protein. The multiple soft nodules and brown macules in the trunk and extremities were identified as neurofibromas and caf -au-lait macules by a dermatologist, and the patient was diagnosed with neurofibromatosis. CONCLUSIONS: We report a rare case of subconjunctival juvenile xanthogranuloma involving the limbus, associated with neurofibromatosis.