Erdheim Chester Disease - Unusual Presentation with Isolated Skeletal Lytic Lesions

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis (LCH) of unknown origin that was first described in 1930. Since then, almost 600 cases have been reported worldwide. Even though this disease primarily affects the bone, it has a varied clinical spectrum of presentation ranging from asymptomatic bone lesions to multisystem involvement. Owing to its protean manifestations ECD is often misdiagnosed or diagnosed late.

We present a 48-year-old female with a long long-standing history of recurrent bone lesion of the tibia and multiple trivial trauma fractures of long bones. Recently, she also developed a persistent headache and painful swelling of the right shoulder and left hip joint. Radiographs revealed multiple lytic and lytic sclerotic lesions. With the probable diagnosis of LCH, she underwent biopsy which revealed features characteristic of ECD.

This case highlights the fact that histopathological confirmation is the key to distinguish various types of histiocytic neoplasms. Overlapping clinical and radiological features with atypical manifestations can occur in both LCH and ECD and does not rule out either of them.