Erdheim-chester disease with bilateral proptosis, coated aorta and hairy kidney

Abstract

Erdheim-Chester disease (ECD) is a rare histiocytic disorder with a spectrum of clinical manifestations, ranging from asymptomatic single-organ involvement to multisystem disease. We present a classic case of ECD with detailed radiographic and histopathologic findings.

A 63-year-old Thai female with a history of triple vessel disease post-PCI presented with bilateral proptosis and blurred vision for one year. On admission, she exhibited marked proptosis epiblepharon, lagophthalmos, conjunctival injection, chemosis, limited extraocular movement and cranial nerve II palsy. Imaging showed increased bilateral retro-orbital infiltrative lesions, osteosclerotic changes, and soft tissue thickening along the great vessels and retroperitoneum. A retro-orbital soft tissue biopsy showed foamy histiocytic proliferation with Touton giant cells. EDC was confirmed by next-generation sequencing revealing a BRAF V600E mutation. This patient received pegylated interferon-alpha. At 1-year follow-up visit, the disease remained stable.

In this report, we present a classic case of EDC. The rarity of this disease makes it challenging to diagnose. The typical presentation characteristics raise awareness for the diagnosis of EDC, which is based on features such as osteosclerotic lesions in the long bones, soft tissue infiltration in medium to large vessels (coated aorta) and the bilateral pelvicalyceal systems (hairy kidney). These findings were confirmed through tissue pathology and molecular diagnostics.