A case of Erdheim-Chester disease with orbital involvement
C. Valmaggia, J. Neuweiler, C. Fretz and I. Gottlob
Department of Strabismus and Neuro-ophthalmology, Kantonsspital, St Gallen, Switzerland.
The Erdheim-Chester disease is a rare idiopathic, systemic, histiocytic
disorder. To our knowledge, ocular involvement has been reported in only 16
cases. We describe a 55-year-old man who had symmetrical exophthalmos and
several skin nodules on the arms and trunk. A magnetic resonance imaging
scan confirmed the presence of bilateral, intraconal, retrobulbar tumors.
An examination of the histopathologic features of orbital and skin biopsy
specimens revealed xanthogranulomatous infiltrate with Touton giant cells.
Further systemic investigations showed bone and retroperitoneal
involvement. Three years later, multiple eyelid xanthelasmas developed in
the patient. These findings are consistent with the diagnosis of the
Erdheim-Chester disease. The patient's condition is stable under therapy
with low-dose corticosteroids. His survival is longer than usually
described in the literature.
