Journal of Postgraduate Medicine
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Year : 2013  |  Volume : 59  |  Issue : 4  |  Page : 326-327  

Erdheim-Chester disease: A clinical and radiological masquerade

V Wadhwa1, RW Marcus2, JA Carrino1, A Chhabra1,  
1 The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, USA
2 Department of Rheumatology, Upper Chesapeake Hospital Center, Bel Air, Maryland, USA

Correspondence Address:
V Wadhwa
The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore

How to cite this article:
Wadhwa V, Marcus R W, Carrino J A, Chhabra A. Erdheim-Chester disease: A clinical and radiological masquerade.J Postgrad Med 2013;59:326-327

How to cite this URL:
Wadhwa V, Marcus R W, Carrino J A, Chhabra A. Erdheim-Chester disease: A clinical and radiological masquerade. J Postgrad Med [serial online] 2013 [cited 2021 Apr 10 ];59:326-327
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Erdheim-Chester disease (ECD) is a rare, xanthogranulomatous, non-Langerhans cell histiocytosis of unknown origin and pathogenesis, caused by foamy macrophage infiltration. Its clinical course is highly variable and ranges from asymptomatic bony involvement to life-threatening multiorgan disease. [1] The most common presentation of ECD is bone pain. The extraosseous manifestations of the disease include diabetes insipidus, painless bilateral exophthalmos, chronic renal failure, hydronephrosis, pulmonary fibrosis, and heart failure. [2] Despite its varied clinical features, the radiological features of ECD are pathognomonic, showing bilateral symmetrical osteosclerosis of the long bones, sparing the epiphyses. [2],[3],[4]

A 70-year-old woman with a history of hypertension, diet-controlled diabetes, hypercholesterolemia, and recent hip replacement developed right knee and bilateral shin pain. Laboratory evaluation showed only an elevated erythrocyte sedimentation rate (ESR = 52). She subsequently underwent imaging of her lower extremities anteroposterior (AP) and lateral radiographs [Figure 1]. Mixed areas of lucency and sclerosis involving the proximal tibias and the distal femurs were observed bilaterally, raising the suspicion of an infiltrative process. Non-contrast magnetic resonance imaging (MRI) evaluation [Figure 2] demonstrated an ill-defined marrow infiltrating process with a patchy distribution centered mainly within the proximal portions of the bilateral tibias. The MRI signal alterations were heterogeneously isointense on T1 and heterogeneously hyperintense on T2-weighted, iso-to-mildly-hyperintense to the muscles. Whole body bone scan imaging (not shown) was done with 99mTc-methylene diphosphonate (Tc99M MDP) and showed a heterogeneous pattern of the increased radiotracer uptake in the diaphysis of the distal femurs, proximal tibia, ulna, and radius bilaterally; in a nearly symmetric fashion in line with a systemic disease. Subsequent biopsies of her right and left tibia demonstrated infiltration with foamy macrophages that were negative for S-100 protein, consistent with the diagnosis of ECD.{Figure 1}{Figure 2}

ECD is a rare non-Langerhans cell histiocytosis, first described in 1930, which typically affects patients in their fifth decade and has a slight male predominance. [5] Histiocytosis is a group of white cell-mediated diseases that have common but characteristic radiographical pleural and bone changes. These are histologically identified by an infiltrate of lipid-laden foamy macrophages, which are the histiocytes or chronic inflammatory cells leading to fibrosis. [6] Foamy macrophages in ECD should be distinguished from Langerhans cell histiocytosis (LCH) based on the immunohistologic characteristics of histiocytes, as cell staining is positive for CD68 and negative for CD1a in ECD. In about 80% of the cases, staining for the S-100 protein is negative as in our case. [1]

Its rarity and varied clinical presentation make ECD a difficult disease to diagnose and treat. Knee and leg pain are the most common symptoms as in this case because the disease affects mainly the lower extremities. [7] Other manifestations of systemic ECD include neurological (diabetes insipidus, ataxia of gait), ocular (bilateral xanthelesma, proptosis), and pulmonary; absent in this case.

Plain radiographs typically show diffuse or patchy opacities of the tibia and/or fibula, medullary sclerosis, and cortical thickening of the diaphyses and metaphyses with sparing of the epiphyses. [3] The most commonly affected bones are the femur, tibia and fibula, and less frequently the ulna, radius and humerus. [5] On bone scan imaging, radioactive tracers such as MDP show bilateral and symmetrical uptake by the long-bone diaphyses and metaphyses, reflecting increased osteoblastic activity. T1-weighted MR images show hypointense soft-tissue masses demonstrating extensive replacement of the healthy fatty marrow. Heterogenous hyperintensity is seen on T2-weighted sequences with a mass protruding into the surrounding tissues. [3],[8]

Differential diagnoses include bone infarction, fibrous dysplasia, chronic osteomyelitis, tuberculous, and fungal osteomyelitis and Engelmann's disease. However, typical radiological findings coupled with bilateral and symmetric replacement of the healthy fatty marrow with/without cortical destruction and an associated soft tissue mass protruding into the surrounding tissues along with characteristic histologic features are helpful in diagnosis of ECD. [8]


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