Hyphaema, heterochromia and hyperpigmented cutaneous nodules

Juvenile xanthogranuloma (JXG) is a rare, benign granulomatous disorder predominantly affecting young children, characterized by the presence of Touton giant cells. While typically presenting as cutaneous lesions, JXG can also involve the eyes, potentially leading to severe complications such as hyphema and glaucoma. Here, we present the case of an 11-month-old girl with multifaceted systemic and ocular manifestations of JXG. She presented with unilateral redness, watering, photophobia, and hyperpigmented nodules distributed across her body. Ocular examination revealed hyphema, heterochromia iridis, fibrinous reaction, and elevated IOP with signs of glaucomatous optic neuropathy. Despite initial treatment with topical steroids and antiglaucoma medications, the patient experienced recurrent hyphema. Further evaluation identified peripheral anterior synechiae and delicate vessels spanning the trabecular meshwork. Histopathological analysis of the skin nodules confirmed the diagnosis of JXG, with systemic involvement noted in the spleen and other organs. Multidisciplinary management, including chemotherapy, resulted in the regression of hyphema and the fibrinous reaction. This case underscores the importance of comprehensive evaluation and a multidisciplinary approach in managing JXG, highlighting the challenges faced by ophthalmologists in preventing complications such as rebleeding and refractory glaucoma.