AJR 2002; 178:429-432
© American Roentgen Ray Society
Erdheim-Chester Disease
A Unique Presentation with Multiple Osteolytic Lesions of the Spine and Pelvis that Spared the Appendicular Skeleton
Michael Robert Klieger1,
Elizabeth Schultz1,
David Erick Elkowitz2,
Myron Arlen3 and
Steven I. Hajdu2
1
Department of Radiology, North Shore University Hospital, 300 Community Dr.,
Manhasset, NY 11030.
2
Department of Pathology, North Shore University Hospital, Manhasset, NY
11030.
3
Department of Surgery, North Shore University Hospital, Manhasset, NY
11030.
Received April 17, 2002;
accepted after revision August 21, 2002.
Address correspondence to M. R. Klieger.
Introduction
Erdheim-Chester disease is a form of non-Langerhans histocytosis, generally
presenting in the fifth through seventh decades of life. Because this disease
occurs rarely and has a broad spectrum of clinical manifestations, it is
easily misdiagnosed. The diagnosis is usually based on radiographic findings
of diametaphyseal medullary sclerosis confined to the appendicular skeleton.
Correlation with CT, bone scan, and pathologic features identifies the
disease. We describe a patient with Erdheim-Chester disease who presented with
nonspecific clinical findings and unique radiographic features.
Case Report
During the course of a routine workup for a 2-month history of hemoptysis,
a 55-year-old man was discovered on CT of the chest to have multiple
well-circumscribed lytic lesions with sclerotic borders in the thoracic spine.
No evidence of mediastinal, parenchymal, pleural, or visceral disease was
seen. The hemoptysis resolved spontaneously. His earlier medical history was
notable for unremitting lower back pain.
The multifocal nature of the patient's osseous lesions prompted a complete
diagnostic workup. Findings of a whole-body bone scan revealed abnormal tracer
activity corresponding to the lesions in the thoracic spine and additional
areas of abnormality in the lumbosacral spine, pelvis, right hip, and multiple
ribs. The appendicular skeleton was normal
(Fig. 1A). A conventional
radiographic metastatic bone survey was unremarkable
(Fig. 1B). Subsequent CT of the
abdomen and pelvis showed additional well-circumscribed lytic lesions in the
thoracic and lumbar spine (Fig.
1C) and a sclerotic lesion in the left ilium
(Fig. 1D). These findings
correlated with the abnormal tracer activity on the bone scan. No sign of
disease was found in the remaining viscera. The radiographic findings
suggested a nonaggressive, benign-appearing process, and the possibility of
Erdheim-Chester disease was raised.
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Fig. 1A. —55-year-old man with severe lower back pain. Whole-body bone
scan obtained using 99Tc-methylene diphosphonate shows increased
tracer, most prominently in thoracolumbar spine, pelvis, right mandible, right
inferior orbital region, and multiple ribs. Sparing of appendicular skeleton
can be seen.
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On the basis of the bone scan, a lesion on the right rib was biopsied with
an intraoperative C-track gamma probe to isolate abnormal tracer activity and
to resect a 5-cm rib specimen. Radiologic images of the rib were not
available. The biopsy specimen showed lipidrich foamy macrophages, scattered
giant cells, lymphocytic infiltrate, and thickened fibrotic bony trabeculae
(Fig. 1E). Special stains were
negative for acid-fast bacillus, Grocott methenamine silver, and periodic acid
schiff, thereby eliminating infectious causes. Immunohistochemical stains were
positive for 
-1-antitrypsin, -1-antichymotrypsin, and
lysozyme—typical of histiocytes. The immunohistochemistry findings were
negative for CD1a, S-100 protein, CAM 5.2, carcinoembryonic antigen, protein
specific antigen, leukocyte common antigen, factor VIII, and
kappa—lambda light chains, and for mucin special staining. These results
defined a histiocytic origin of disease with characteristics of
non-Langerhans' cells. Electron microscopy showed non-Langerhans' histiocytes,
which have a typical round nuclei, dense lysozomal residual bodies, and a
complete absence of Birbeck granules (Fig.
1F).
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Fig. 1E. —55-year-old man with severe lower back pain. Photomicrograph
of biopsy specimen from right rib shows nodular area of lipid-rich foamy
macrophages with hemorrhage, surrounded by fibrosis, thickened bony
trabeculae, and minimal lymphocytic infiltrate. (H and E, x20)
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Fig. 1F. —55-year-old man with severe lower back pain. Electron
micrograph shows typical non-Langerhans' histiocyte with round nucleus, dense
lysozomal bodies, and absence of Birbeck granules. (x19,000)
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The patient's severe back pain was treated with morphine and steroids. He
was followed up closely by his clinicians, and his pain was well controlled at
the time this report was written. A bone scan performed 2 years after his
initial presentation showed no evidence of skeletal progression of
disease.
Discussion
Erdheim-Chester disease is classically distinct from Langerhans' cell
histiocytosis. It originates from non-Langerhans' histiocytes and results in
diffuse infiltration of bone, viscera, and the retroperitoneum. Common medical
complications include progression to respiratory, renal, and cardiac failure.
Given its nonspecific clinical presentation, establishing the diagnosis relies
exclusively upon correlation of the radiographic and pathologic findings.
Conventional radiography of Erdheim-Chester disease typically shows a
bilateral symmetric pattern of medullary sclerosis involving the diametaphyses
of the lower extremities with sparing of the epiphysis. Patchy areas of
increased density with coarse trabeculae and cortical thickening have also
been described [1]. Less
frequently, mixed osteolytic and osteosclerotic lesions may develop.
Involvement of the axial skeleton is rare, occurring almost exclusively with
osteosclerosis of the extremities
[2].
The osseous findings seen in our patient consist of benign-appearing
well-defined lytic lesions with sclerotic margins in the spine, mixed lytic
and sclerotic lesions in the pelvis, and rib abnormalities identified by bone
scan. Two features of our patient's skeletal abnormalities are unusual. His
pattern of disease, confined to the axial skeleton without involvement of the
appendicular skeleton, is unique in Erdheim-Chester disease and instead is
typical of Langerhans' cell histiocytosis. Furthermore, osteolytic lesions are
infrequently associated with Erdheim-Chester disease. In a review of 59 cases,
lytic lesions were found in only 5-8% of patients. These lesions were in the
flat or long bones, rather than in the spine, and were usually concurrent with
the typical osteosclerotic appendicular lesions
[2]. One unusual exception was
a series of three patients with isolated rib lesions and histopathology
consistent with Erdheim-Chester disease
[3]. However,
immunohistochemical stains for CD1a and S-100 protein were not available at
that time.
The pathology of Erdheim-Chester disease reveals xanthogranulomatous
lesions, infiltrates of foamy lipid-laden histiocytes, giant cells, and
osteosclerosis with medullary fibrosis
[1]. Fibrosis, reactive bone
sclerosis, and inflammatory cells are characteristic of Erdheim-Chester
disease but are not specific. The specimen may include the rim of the lesion,
where reactive bony trabeculae are found. When this is the case, the diagnosis
can be mistaken for other diseases, including Langerhans' cell histiocytosis
and fibroosseous disease of the ribs. Immunohistochemical stains are necessary
to definitively characterize foamy macrophages. Langerhans' macrophages
contain Birbeck granules and stain positive for S-100 protein and CD1a,
whereas the foamy macrophages in Erdheim-Chester disease do not
[2]. Langerhans' cells have
been reported in Erdheim-Chester disease, but they should represent a minority
of cells [2]. There were no
Langerhans' cells in our patient; the foamy macrophages showed a complete
absence of S-100 or CD1a positive cells and a normal immunohistochemical
profile. Electron microscopy showed the classic findings of non-Langerhans'
cells and a complete absence of Birbeck granules
(Fig. 1F).
Although it is true that the vertebral lesions in our patient were not
biopsied, the rib histopathology provided strong evidence for the diagnosis of
Erdheim-Chester disease, and lytic lesions have been reported to occur in this
disease. The vertebral lytic lesions could not be Schmorl's nodes because of
their location within the vertebral bodies, their multiplicity, and the
presence of identical lesions in the pelvis. The sclerotic lesion in the
pelvis could be mistaken for metastatic disease, but the constellation of
radiographic findings made the possibility of metastatic disease unlikely.
The diagnosis of Erdheim-Chester disease cannot be made with certainty on
the basis of only one modality. Multiple cases of Langerhans' cell
histiocytosis and Erdheim-Chester disease have been noted that blur the
radiographic distinction between these two diseases. The literature describes
patients who have both biopsy-proven Langerhans' cell histiocytosis and
radiographic features of Erdheim-Chester disease, marked by classic long-bone
symmetric sclerosis and relative sparing of the epiphysis
[4,5,6].
Other reports detail both the typical histologic and radiographic findings of
Erdheim-Chester disease and separate areas of biopsy-proven Langerhans' cell
histiocytosis in the same patient, raising the possibility that these findings
are part of the same disease process
[3,
5,
7,
8]. Similarly, in a review of
59 cases of Erdheim-Chester disease, four patients were excluded who had the
histopathologic and radiographic features of both diseases
[2]. However, to the best of
our knowledge, our patient represents the only definitive manifestation of
Erdheim-Chester disease in the literature presenting as a purely axial,
primarily osteolytic disease.
In conclusion, Erdheim-Chester disease is a rare entity with a varied
clinical presentation and a generally poor prognosis. The radiographic and
pathologic similarities between Erdheim-Chester disease and Langerhans' cell
histiocytosis may arise from common origins. Consideration of Erdheim-Chester
disease and its osseous manifestations may lead to early diagnosis and further
advances in our understanding of this disease.
References
-
Resnick D, Greenway G, Genant H, Brower A, Haghighi P, Emmett M.
Erdheim-Chester disease. Radiology
1982;142:289
-295[Free Full Text]
-
Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, et al.
Erdheim-Chester disease: clinical and radiologic characteristics of 59 cases.
Medicine
1996;75:157
-169[Medline]
-
Dalinka MK, Turner ML, Thompson JJ, Lee RE. Lipid granulomatosis of
the ribs: focal Erdheim-Chester disease. Radiology
1982;142:297
-299[Free Full Text]
-
Waite RJ, Doherty PW, Liepman M, Woda B. Langerhans cell
histiocytosis with the radiographic findings of Erdheim-Chester disease.
AJR
1988;150:869
-872[Free Full Text]
-
Strouse PJ, Ellis BI, Shifrin LZ, Shah AR. Case report 710:
symmetrical eosinophilic granuloma of the lower extremities (proven) and
Erdheim-Chester disease (probable). Skeletal Radiol
1992;21:64
-67[Medline]
-
Kambouchner M, Colby TV, Domenge C, Battesti JP, Soler P, Tazi A.
Erdheim-Chester disease with prominent pulmonary involvement associated with
eosinophilic granuloma of mandibular bone.
Histopathology
1997;30:353
-358[Medline]
-
Brower AC, Worsham GF, Dudley AH. Erdheim-Chester disease: a
distinct lipidosis or part of the spectrum of histiocytosis?
Radiology
1984;151:35
-38[Abstract/Free Full Text]
-
Fink MG, Levinson DJ, Brown NL, Sreekanth S, Sobel GW.
Erdheim-Chester disease: case report with autopsy findings. Arch
Pathol Lab Med
1991;115:619
-623[Medline]
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Introduction
Case Report
