Juvenile xanthogranuloma masquerading as pediatric chronic uveitis: A clinicopathologic study

juvenile xanthogranuloma (JXG) is a rare, pediatric histiocytic skin disord er that may affect the eye. It can present with protean ocular manifestatio ns, including masquerade uveitis, heterochromia, hyphema, or glaucoma. It v ery rarely involves the retina and posterior segment; indeed, posterior inv olvement has been documented histopathologically in only one case. We prese nt the case of a 2-year-old child with ocular JXG presenting as chronic, re fractive uveitis, without skin or systemic findings. The blind, painful eye was enucleated and found to harbor a diffuse histiocytic process that invo lved both the anterior and posterior segments, including the retina and sub retinal space. Histological, immunohistochemical, and electron microscopic studies confirmed the diagnosis of JXG. The pathologic classification and d ifferential diagnosis of systemic histiocytic disorders are discussed. Sinc e JXG can present as masquerade pediatric uveitis, this entity should be co nsidered in children with atypical uveitis. In rare instances, JXG may invo lve the posterior segment and the retina, leading to retinal detachment and blindness. (C) 2001 by Elsevier Science Inc. All rights reserved.