Juvenile xanthogranuloma masquerading as pediatric chronic uveitis: a clinicopathologic study

Surv Ophthalmol. 2001 Sep-Oct;46(2):164-71. doi: 10.1016/s0039-6257(01)00253-3.

Abstract

Juvenile xanthogranuloma (JXG) is a rare, pediatric histiocytic skin disorder that may affect the eye. It can present with protean ocular manifestations, including masquerade uveitis, heterochromia, hyphema, or glaucoma. It very rarely involves the retina and posterior segment; indeed, posterior involvement has been documented histopathologically in only one case. We present the case of a 2-year-old child with ocular JXG presenting as chronic, refractive uveitis, without skin or systemic findings. The blind, painful eye was enucleated and found to harbor a diffuse histiocytic process that involved both the anterior and posterior segments, including the retina and subretinal space. Histological, immunohistochemical, and electron microscopic studies confirmed the diagnosis of JXG. The pathologic classification and differential diagnosis of systemic histiocytic disorders are discussed. Since JXG can present as masquerade pediatric uveitis, this entity should be considered in children with atypical uveitis. In rare instances, JXG may involve the posterior segment and the retina, leading to retinal detachment and blindness.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Child, Preschool
  • Chronic Disease
  • Diagnosis, Differential
  • Eye Enucleation
  • Female
  • Histiocytes / pathology
  • Humans
  • Retina / pathology
  • Uveitis / diagnosis*
  • Uveitis / surgery
  • Xanthogranuloma, Juvenile / diagnosis*
  • Xanthogranuloma, Juvenile / surgery