Erdheim-Chester Disease–A Rare Differential Diagnosis of Eosinophilic Granuloma: A Case Report^[*]

Introduction

Erdheim-Chester disease is a very rare form of histiocytosis and is characterized by infiltration of lipoid granules, typically in metaphyses of long bones. Histological examination reveals mononuclear cells, which are lipid storing histiocytes and giant cells. In addition to bony manifestations, there is usually involvement of other organ systems. Particularly important are retroperitoneal, pulmonary, cardiac, orbital, and intracranial localizations. This complexity explains a very variable disease process that reaches from an asymptomatic, focal process to fatal systemic processes. The most common causes of death are cardiomyopathy, severe pulmonary disease, and chronic renal insufficiency.[2] [3] [4] To the best of our knowledge, there have been 300 cases described in the literature to date. It mainly affects patients over 40 years of age. There is a slight male predominance.[1] It is known that Langerhans cell histiocytosis or histiocytosis X may also develop a similar clinical course as Erdheim-Chester disease. It is a uni- or multifocal tumor-like collection of Langerhans cells in the skin or in other organs. However, ultimately a progressive form of Langerhans cell histiocytosis has been described as different diseases and syndromes independant from each other. Hand-Schuller-Christian disease with bony changes, exophthalmos, diabetes insipidus, hepatosplenomegaly, and skin lesions is a well-known example.[5] [6] A distinction between Erdheim-Chester disease and Langerhans cell histiocytosis is practically impossible on a clinical or radiological basis and requires histological and immunohistochemical evaluation.[14] The most important clinical, radiological, and histological distinguishing aspects between Langerhans cell histiocytosis and Erdheim-Chester disease are shown in [Table 1].

Table 1 Clinical, radiological and histological distinguishing aspects

	Langerhans cell histiocytosis	Erdheim-Chester disease
clinical characteristics	− often papulosis skin manifestation in the form of seborrheic eczema − liver function disorders with hypoproteinemia − endocrinological attacks − involvment of lungs and respiratory insufficiencey − often associated with leukemia, malignent lymphoma	− infiltration of retroperitoneal space − lung fibrosis, right ventricular failure − intracranial infiltration, e. g., in the pituitary gland, which results in diabetes insipidus − fever, bone and abdominal pain − vertigo, gait insecurity − often xanthelasma
radiological characteristics	− occasionally spontaneous fracture − all bones can be involved, e. g., skull involvement with osteolytic lesions	− often attacks long, hollow bones in the distal extremity with most symmetrical osteolytic structural changes − the complete skeletal system can be affected
histological and immunocytological characteristics	− cellular infiltrate from large histiocytic cells with frosted glass like eosinophil plasma cells − positive evidence of CD1a or protein S 100, no evidence of CD68 expression	− manifestation with proliferation large foam cell histiocyts − no expression of CD1a or protein S 100, evidence of CD68 expression

^* This article was originally Published online in Central European Neurosurgery on April 6, 2011 (DOI:10.1055/s-0031-1271653)

• References

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