Orbital and eyelid involvement with Erdheim-Chester disease. A report of two cases
J. A. Shields, Z. A. Karcioglu, C. L. Shields, R. C. Eagle and S. Wong
Ocular Oncology Service, Wills Eye Hospital, Philadelphia, PA 19107.
Erdheim-Chester disease is an idiopathic condition characterized by
infiltration of the heart, lungs, retroperitoneum, bones, and other tissues
by a fibrosing xanthogranulomatous process composed of xanthomatous
histiocytes and Touton giant cells. This condition is often fatal, with
death due to cardiomyopathy, severe lung disease, or chronic renal failure.
Ocular findings with this potentially fatal disease are rare. We report the
clinical and histopathologic findings in two cases of bilateral
xanthelasmas and bilateral orbital infiltrates in association with
Erdheim-Chester disease. The first patient was a 38-year-old man with
cardiovascular and renal disease and severe retroperitoneal fibrosis. The
massive orbital infiltration produced bilateral blindness. The second
patient was a 77-year-old man with severe cardiovascular disease and
retroperitoneal fibrosis. The diagnosis was confirmed in both patients with
retroperitoneal and orbital biopsies. Both patients had the unusual
occurrence of bilateral xanthelasmas with bilateral, diffuse orbital
masses, eye findings that should alert the clinician to the possibility of
this serious systemic disease.
