Erdheim-Chester Disease with Renal Mass Presentation: Report of the First Case From Palestine and a Review of the Literature

Abstract

Objective: Background: Case Report: Conclusions: Rare disease Erdheim-Chester disease (ECD), a form of non-Langerhans-cell histiocytosis, is extremely rare. The mean age of individuals with ECD is in their 50s. Histiocytic infiltration of vital organ systems is a potential cause of sub-stantial morbidity, which is associated with the multisystemic form of ECD. This report presents the first case of ECD with renal abnormalities in Palestine. A 54-year-old woman with no medical or surgical history presented with 6 months of bilateral flank pain with no radiation or fever. A physical examination revealed only bilateral flank pain. Urine tests showed microhe-maturia. Laboratory test results showed increased serum creatinine levels (1.21 mg/dL) and microcytic ane-mia. A CT scan revealed significant multi-organ abnormalities, including renal abnormalities with a hairy kidney sign, pericardial effusion, and an osteolytic lesion of the spine. The hairy kidney sign is pathognomonic for ECD, so the renal mass was biopsied to confirm the diagnosis. The biopsy showed foamy histiocytes, lympho-cytes, and plasma cells. Foamy histiocytes were CD68-positive and negative for S100, CD1a, and HMB45. PAx5 and CD3 immunostaining showed T-predominant B-lymphocyte mixtures. In the setting of systemic symptoms and imaging abnormalities such as presence of the hairy kidney sign, peri-cardial effusion, and osteolytic lesion of the spine, it is necessary to examine the possibility of ECD and proceed with a biopsy for confirmation. This is the first case in Palestine to be reported and the second case worldwide with a renal mass as an atypical presentation.