Erdheim-Chester disease with extensive marrow necrosis - A case report andliterature review

Erdheim-Chester disease is a rare systemic disorder characterized by a fibr osing xanthogranulomatous infiltration of multiple organs. We report a case of Erdheim-Chester disease with diffuse necrosis leading to difficulty in making a prompt diagnosis. Radiologically, osteosclerotic lesions with oste olytic element involved metadiaphyses of both proximal tibia, and retroperi toneal infiltrations encasing both kidneys, both adrenals, and aorta were f ound. A biopsy of the tibia showed diffuse infiltration of foamy histiocyte s, Touton-type giant cells, and fibroblastic cells associated with extensiv e coagulative necrosis. Immunohistochemically, foamy histiocytes were posit ive for CD68 and peanut agglutinin and negative for S-100 protein. A few La ngerhans' cells, which were difficult to identify in hematoxylin-eosin stai n, were highlighted by immunostain for S-100 protein. The patient received supportive therapy and was alive 1 1/2 years after diagnosis, with newly de veloped bilateral retrobulbar lesions and worsened heart failure.