Infiltrative subcutaneous juvenile xanthogranuloma of the eyelid in a neonate

An 18-day-old child presented with rapid enlargement of a firm subcutaneous eyelid mass present since birth. Imaging revealed extension into the anterior orbit. Incisional biopsy revealed juvenile xanthogranuloma. Multidisciplinary systemic evaluation revealed no other lesions, although thrombocytopenia was discovered, prompting a bone marrow biopsy to rule out malignancy. Once none were uncovered, the thrombocytopenia was felt to be consistent with idiopathic thrombocytopenia. The patient was treated with intralesional steroid injections and concurrent oral prednisolone to normalize platelet count. The lesion softened, and reinjection 4 weeks later induced further regression, allowing the eyelid to clear the pupil. Although ocular involvement is a commonly reported extracutaneous manifestation of juvenile xanthogranuloma, a congenital subcutaneous eyelid lesion with orbital involvement has not been previously reported. Juvenile xanthogranuloma is typically benign and self-limiting; however, it can be associated with systemic disease, and treatment may be necessary to prevent amblyopia if the eyelid is involved. Early multidisciplinary evaluation for systemic lesions and associated malignant conditions should be considered.