Juvenile xanthogranuloma (JXG) is a benign histiocytic skin disorder mainly encountered during infancy and childhood. Although with multiple potential localizations, less than 1% of the cases exhibit ocular manifestations. Some of these might lead to serious complications, specifically, secondary glaucoma that can result in severe and blinding eye disease. The aim of the present case report was to demonstrate typical clinical features, emphasize the difficulties attributed when managing these patients and literature review. We present the case of 4 months old female baby with spontaneous hyphema and secondary unilateral glaucoma due to ocular JXG. The natural history and treatment of the condition were extremely difficult to handle due to multiple opinions in histopathology related to other severe conditions that resembled with the lesions detected in this case: myelomonocytic leukemia and Langerhans cell histiocytosis. Although a minority of patients with JXG have ocular involvement, recognition of this condition is important because a treatment delay can lead to serious complications, such as glaucoma and spontaneous hyphema, as in our case. A thorough differential diagnosis represents the key to a proper management plan in these patients, both on short and long term. "Triple disease" defined as JXG plus neurofibromatosis type 1 (NF-1) and juvenile chronic myelogenous leukemia (JCML) has been reported, but it was not confirmed in our patient.
Keywords: infant; juvenile xanthogranuloma; secondary glaucoma; spontaneous hyphema.