Presentation
Symptoms of diabetes insipidus and generalized bone pain with mild renal impairment.
Patient Data
Axial CT scan with IV contrast demonstrates mild bilateral hydronephrosis due to rind-like soft tissues enveloping both kidneys in perinephric spaces (hairy kidney appearance) with surrounding fat stranding. No significant enhancement in the post-contrast study. Fat stranding and soft tissue thickening and mass-like structures are seen surrounding the mesenteric vessels in the central abdominal cavity. There are no renal or ureteric stones.
Multiple patchy sclerotic lesions are seen in the pelvic bones and sacrum. Mixed sclerotic and lytic lesions are seen in the proximal femurs with a coarsened trabecular pattern.
HISTOLOGY
GROSS
The specimen received in formalin consists of two separate skin-covered yellowish-brown tissue pieces measuring together 2x1.5x0.2 cm; submitted.
MICROSCOPIC
Serial sections examined from the specimen received reveal pieces of skin tissue showing dermal infiltration by lobules of foamy cells, having small round nuclei and abundant foamy cytoplasm, accompanied by many Touton-type multinucleated giant cells.
No evidence of malignancy in this biopsy.
FINAL DIAGNOSIS
Eyelid skin lesion, biopsy; dermal foamy cell infiltrate.
Case Discussion
Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis with characteristic radiological and histological features. This entity is defined by a mononuclear infiltrate consisting of lipid-laden, foamy histiocytes that stain positively for CD68 and negatively for CD1a. Osseous involvement is constant and characteristic. Extra-osseous lesions may affect the retroperitoneum, lungs, skin, heart, brain, and orbits.
Our case presents with symptoms of diabetes insipidus, generalized bone pain, mild renal impairment, and xanthelasmas.
The differential diagnosis includes retroperitoneal fibrosis (secondary to drug toxicity, inflammation, or infection), IgG4-related disease, and lymphoma.
Diabetes insipidus was confirmed to be central by the laboratory, and the patient responded very well to treatment with vasopressin. The brain MRI done (not shown) was normal.
Acknowledgments: Dr. Mohamed Almekhlafi (an internist) and Dr. Wael Al-Absi (a pathology specialist).
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