Erdheim Chester disease (ECD) is a rare non-Langerhans histiocytic multisystem disorder. ECD is most commonly manifested as multifocal sclerotic long bone lesions. Orbital and intraocular manifestations are rare. We report an unusual bilateral orbital presentation as xanthomatous infiltration of ECD.

A 56-year-old male was admitted due to papular lesions on both eyelids. Eyelid tissue histology showed histiocytic infiltration consistent with ECD. BRAF V600E mutation (-). In the first year, PET-CT showed new lesions on the lymph node, eyelids, knees and elbows. Laboratory investigation was within normal apart of mild increased CRP. The disorder was unresponsive to pegylated interferon alfa. With cladribine of 3 courses and surgical intervention he achieved a nearly normal facial appearance.

Uncontrolled cell survival, differentiation, and proliferation of histiocytes in ECD result in soft tissue thickening and progressed to chronic fibrotic disease which may be unresponsive to medical treatments and requires surgical interventions.