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| Authors | P J Cassar K Cassar B Coleiro C Mallia M Diacono M P Brincat A Samuel |
| Abstract | Erdheim-Chester disease is a very rare systemic non-Langerhans histiocytosis of unknown aetiology. Less than 200 cases have been reported in the literature. The affected organs are infiltrated with lipid-laden macrophages, multi-nucleated giant cells and an inflammatory infiltrate of histiocytes and lymphocytes. Bone involvement is a hallmark feature, and typically this is symmetrical with metaphysial and diaphyseal involvement. This pattern may be seen on bone scintigaraphy and is pathognomonic of the disease. Other organs may be affected and these include the skin, the central nervous system, the heart, the lungs, the retroperitoneum and rarely the orbits. Symptomatology and prognosis depends on the extent of organ involvement. The disease has a high mortality due to resultant end-organ failure. We present the case of a 51 year old gentleman who was investigated for a one year history of a lesion in the lower gum. This had gradually increased in size and further lesions had appeared. He also complained of abdominal pain. Biopsy of the lesion showed a submucoid xanthoma. CT Scan of the Chest and Abdomen showed a benign looking right lower costal lesion, and a soft tissue mesenteric tumour with perinephric exudation and ascites. Bone scintigraphy showed symmetrical involvement in the long bones as is typical in Erdheim-Chester disease as well as increased uptake in the mandible, maxilla and the seventh and eighth right ribs. The patient received radiotherapy to the gum lesions and is being treated with interferon. This is the first case diagnosed in Malta. |
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| Journal | Malta Medical Journal |
| Volume | 15 Issue 1-2/suppl. 2003 |
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| Key words | case report, Erdheim-Chester disease |