Clinical Radiology (1986) 37, 93-96 © 1986 Royal College of Radiologists

Case Report" Erdheim-Chester Histiocytosis SHARON EVANS and FRANK WILLIAMS*

Departments o f Medicine and *Radiology, Nevill Hall Hospital, Abergavenny, Gwent

0009-9260/86/543093502.00

Disease: Polyostotic Sclerosing

Erdheim-Chester disease is characterised by diffuse metaphyseal and diaphyseal sclerosis of long tubular bones of the appendicular skeleton. In addition, there is an inconstant tendency to visceral involvement by lipo- granulomatous infiltration. Histologically, this condition has marked similarities to Hand-Schuller-Christian dis- ease. A further case is presented which supports the view that Erdheim-Chester disease is part of the spectrum of histiocytoses and not a distinct pathological entity. Poly- ostotic sclerosing histiocytosis would be an appropriate alternative label for this condition.

Chester (1930) described two cases of lipoidosis with distinctive skeletal changes which differed significantly from the osseous changes observed in other lipoidoses such as Gaucher's disease and Hand-Schuller-Christian disease. The deposition of cholesterol-laden foamy histiocytes in the bone marrow is thought to induce the osseous sclerosis which is typically seen in this condition (Jaffe, 1972). Skeletal changes are characterised by sclerosis of long bones of the appendicular skeleton with either absence or relative sparing of pathological change within the epiphyses (Jaffe, 1972; Simpson et al., 1979; Dee et al., 1980).

Jaffe (1972) subsequently designated this condition Erdheim-Chester disease, as the changes described appeared to constitute a distinct disease process. A total of 16 cases of Erdheim-Chester disease have been reported in the medical literature with various inter- pretations as to the aetiology of the condition. We report a further case which supports the view of Brower et al. (1984) that this disease should be included in the spectrum of histiocytoses.

CASE REPORT

A 42-year-old woman presented with painful swelling of both knees, which had progressively worsened over a period of three years. There are no other symptoms and the patient's past medical history was unremarkable. Physical examination revealed mild swelling and ten- derness localised to the pre-patellar and supra-patellar areas of both knees. The examination was otherwise entirely normal.

Full blood count, erythrocyte sedimentation rate, blood urea, liver function tests and the serum lipids were all normal. An abdominal ultrasound examination was also entirely normal. Radiographs of the lower limbs showed symmetrical dense sclerosis involving the metaphyses and diaphyses of the distal femora and proximal tibia and fibula bilaterally (Fig. la, b) Similar sclerotic appearances were also noted involving the metaphyseal region of the distal tibia and fibula and also the calcaneum, again bilaterally. In addition, medullary sclerosis involving the proximal diaphyses of the femora, more marked on the left side (Fig. 2a). There were also areas of medullary rarefac- tion involving the metaphyses of both proximal femora, again with changes more marked on the left side (Fig. 2a). A skeletal survey demonstrated no further areas of involvement.

Skeletal scintlgraphy demonstrated marked increase in isotope activity around the knee joints (Fig. lc), ankle joints and the proximal femora, particularly on the left side (Fig. 2b). Open trephine biopsy of the right upper tlblal metaphysls revealed grossly abnormal sclerotic bone fragments containing irregular, thickened cortical bone and intertrabecular spaces filled with spindle-cell tissue of cholesterol- laden histiocytes, plasma cells and lymphocytes (Fig. 3). The radio- logical and histological changes were consistent with the diagnosis of' Erdheim-Chester disease.

DISCUSSION

Erdheim-Chester disease has been considered a dis- tinct disease entity within the family of lipoidoses, based on both clinical and radiological grounds. Histologi- cally, this condition is very similar to Hand-Schuller- Christian disease. Of the 16 cases reported in the litera- ture, of which two cases have very brief mention (Melicow, 1953; Resnick et al., 1982) there is no distinc- tive clinico-pathological pattern to suggest a separate disease entity. The disease presents in middle to late life with only one reported case of less than 40 years of age. Clinical findings are either absent, which is usually the case, or are non-specific and relate to visceral and skele- tal involvement by the underlying disease process. Visceral involvement by lipo-granulomatous infiltration was present in six of the 16 patients, with a predilection for the retroperitoneum and intrathoracic organs.

Sorensen (1964) suggested that this condition was the result of hyperlipaemia. Only two cases have demon- strated an abnormal lipid profile (Sorensen, 1964; Bohne et al., 1979), indicating a tenuous link between this condition and lipid metabolism.

The histological pattern of Erdheim-Chester disease has features in common with histiocytoses, particularly Hand-Schuller-Christian disease. There is pronounced trabecular thickening within the medullary cavity with associated intertrabecular infiltration by cholesterol- laden foamy histiocytes, lymphocytes, plasma cells and occasional eosinophils. The result is marrow fibrosis and endosteal new bone formation (Resnick et al., 1982). Eventually medullary sclerosis leads to obliteration of the endosteal margin (Dee et al., 1980). Visceral involvement is by lipo-granulomatous infiltration.

The radiological features of Erdheim-Chester disease are sufficiently distinct to suggest the diagnosis (Bohn et al., 1979). Typically, there is both metaphyseal and diaphyseal sclerosis which involves predominantly the major long bones of the appendicular skeleton. Skull and axial skeletal involvement is unusual. The distribu- tion of sclerosis demonstrates a degree of symmetry and rarely appears to involve the epiphyses. In early cases lytic skeletal changes were notably lacking, which led Jaffe (1972) to assume that this condition was not a true inflammatory histiocytosis. However, three patients

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E R D H E I M C H E S T E R DISEASE P O L Y O S T O T I C S C L E R O S I N G HISTIOCYTOSIS 95

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Fig. 2 - (a) An AP pelvic radiograph showing proximal diaphyseal femoral medullary sclerosis and metaphyseal medullary rarefaction predominantly involving the left side. (b) A radionuclide scan (tech- netium-99m polyphosphate) reveals increased accumulation of iso- tope within the proximal diaphysis and metaphysis of the femur, predominantly on the left side.

have subsequently presented with expansile lytic rib lesions with histological change consistent with Erdheim-Chester disease but without the typical appen- dicular skeletal involvement (Dalinka et al., 1982). Other authors have reported lytic lesions in association with the typical sclerotic lesions and, in at least one case,

both radiological and histological changes were indistinguishable from those of eosinophilic granuloma (Bohne et al., 1979; Dee et al., 1980; Brower et al., 1984).

Our patient had both the classical appendicular dis- tribution of medullary sclerosis and associated areas of

96 CLINICAL RADIOLOGY

tory findings, it was considered very likely that the medullary lysis was part of the same disease process.

In summary, our case adds further support to the view, expressed by Brower et al. (1984), that this condi- tion should be included in the spectrum of histiocytoses rather than being considered a separate, distinctive dis- ease entity.

Acknowledgements. The authors wish to thank Drs John Saunders and Richard Kellett and the Bristol Bone Registry. We also thank Mrs Elena Bowen for secretarial assistance.

Fig. 3 - A photomicrograph of the biopsy specimen (haematoxylin and eosin stain) shows thickened bony trabeculae, with fibrosis of marrow spaces and infiltration by foamy histiocytes, lymphocytes and plasma cells, characteristic of Erdheim-Chester disease.

femoral metaphyseal medullary rarefaction. Certainly, on skeletal scintigraphy these areas were contiguous with medullary sclerotic changes and, in the absence of evidence of systemic disease on both clinical and labora-

REFERENCES

Chester, W. (1930). Ober lipid Granulomatose. Virchows Archiv (Pathologische Anatomie), 279, 561-602.

Bohne, W. H. O., Goldman, A. B. & Bullough, P (1979). Case report 96. Skeletal Radiology, 4, 164-167.

Brower, A. C., Worsham, G. F. & Dudley, A. H. (1984). Erdheim- Chester disease: a distinct lipoidosis or part of the spectrum of histiocytosis? Radiology, 151, 35-38.

Dahnka, M. K., Turner, M. L., Thompson, J. J. & Lee, R. E. (1982). Lipid granulomatosis of the ribs: focal Erdheim-Chester disease. Radiology, 142, 297-299.

Dee, P. M., Westgaard, T. & Langholm, R. (1980). Erdheim-Chester disease - case with chronic discharging sinus from bone. American Journal of Roentgenology, 134, 83%839.

Jaffe, H. L. (1972). Gaucher's disease and certain other metabolic disorders: lipid granulomatosis. In Metabolic Degenerative and Inflammatory Diseases of Bones and Joints, pp. 533-541. Lea and Febiger, Philadelphia.

Melicow, M. M. (1953). Primary tumours of the retroperitoneum. Journal of the International College of Surgeons, 19, 401-449.

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Simpson, F. G., Robinson, P. J., Hardy, G. J & Losowsky, M. S. (1979). Erdheim-Chester disease associated with retroperitoneal granuloma. British Journal of Radiology, 52, 232-235.

Sorensen, E. W. (1964). Hyperlipaemia: report of an unusual case complicated by bone lesions, macrocytic anaemia and leukaemoid bone marrow. Acta Me&ca Scandinavica, 175, 207-214.