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Published online before print December 21, 2005, 10.1148/radiol.2382041525
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(Radiology 2005;238:632-639.)
© RSNA, 2005

Musculoskeletal Imaging

Bone Involvement in Erdheim-Chester Disease: Imaging Findings including Periostitis and Partial Epiphyseal Involvement1

Elisabeth Dion, MD, Claire Graef, MD, Anne Miquel, MD, Julien Haroche, MD, Bertrand Wechsler, MD, Zahir Amoura, MD, Delphine Zeitoun, MD, Philippe A. Grenier, MD, Jean-Claude Piette, MD and Jean-Denis Laredo, MD

1 From the Departments of Radiology (E.D., C.G., D.Z., P.A.G.) and Internal Medicine (J.H., B.W., Z.A., J.C.P.), La Pitié Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France; Department of Radiology, Bicêtre Hospital, Paris, France (A.M.); and Department of Radiology, Lariboisière Hospital, Paris, France (J.D.L.). Received September 3, 2004; revision requested November 24; revision received January 24, 2005; accepted February 24; final version accepted April 11. Address correspondence to E.D. (e-mail: elisabeth.dion{at}psl.ap-hop-paris.fr).


   ABSTRACT
TOP
 ABSTRACT
INTRODUCTION
 MATERIALS AND METHODS
 RESULTS
 DISCUSSION
 References
 
Purpose: To retrospectively review the bone findings at radiography, scintigraphy, computed tomography (CT), and magnetic resonance (MR) imaging in 11 patients with immunohistochemical and histologic proof of Erdheim-Chester disease.

Materials and Methods: This study was designed as a retrospective review; approval of the institutional review board and patient consent were not required for this type of study. Eleven patients (eight men and three women; mean age, 49 years; range, 17–68 years) with Erdheim-Chester disease underwent conventional radiography of the skeleton and bone scintigraphy. Two patients underwent CT of the femora and 10 underwent CT of the skull. Eight patients underwent MR imaging. Conventional radiographs, bone scintigrams, CT scans, and MR images were reviewed in consensus by four musculoskeletal radiologists.

Results: All 11 patients had involvement of the long bones and normal axial skeleton, hands, and feet. Bilateral and symmetric osteosclerosis of the diaphysis of the long bones was present in 52 (26 pairs) (98%) of the 53 bone lesions visible on conventional radiographs. Osteosclerosis was heterogeneous in 65% of the patients and homogeneous in 35%. Diaphysis was involved in 100% and metaphysis in 44 (83%) lesions. Partial epiphyseal involvement sparing the subchondral bone was present in 24 (45%) lesions. Periostitis was seen in 35 (66%) and endosteitis in 50 (94%) of the 53 long bones involved. Bone scintigraphy depicted tracer uptake in all bone lesions visible on radiographs. Skull and face bone lesions were present in two patients. MR imaging depicted a replacement of the normal fatty bone marrow by heterogeneous signal intensity on T1- and T2-weighted spin-echo images. Lesion extent, epiphyseal involvement, and periostitis were clearly depicted at MR imaging.

Conclusion: This series provides a detailed description of bone involvement in Erdheim-Chester disease. Periostitis and partial epiphyseal involvement of the long bones are also features of this disease.

© RSNA, 2005


   INTRODUCTION
TOP
 ABSTRACT
 INTRODUCTION
MATERIALS AND METHODS
 RESULTS
 DISCUSSION
 References
 
Erdheim-Chester disease is a rare non–Langerhans cell histiocytosis (1). It is a true systemic disease with almost constant bone involvement (2–7) and extraosseous involvement in 60% of the patients (2). The pattern of extraosseous involvement is highly variable and may be life threatening (8–12). The most common extraosseous clinical manifestations are diabetes insipidus and painless bilateral exophthalmos. These two manifestations, together with bone pain, compose the classic Erdheim-Chester disease diagnostic triad (9).

The diversity and the nonspecific clinical presentation of visceral involvement in Erdheim-Chester disease enforce the diagnostic value of skeletal radiologic findings. Bone involvement in this disease is rather stereotyped and characterized at conventional radiography by symmetric bilateral osteosclerosis of the metaphysis and diaphysis of the long bones, sparing the axial skeleton, as well as the hands and feet. Magnetic resonance (MR) imaging findings of skeletal involvement have been reported in a few individual cases and consist of nonspecific bone marrow replacement (2,7,9,13–15). To our knowledge, only one series describing the radiographic findings in five patients has been reported (5).

Thus, the purpose of our study was to retrospectively review the bone findings at radiography, scintigraphy, computed tomography (CT), and MR imaging in 11 patients with immunohistochemical and histologic proof of Erdheim-Chester disease.


   MATERIALS AND METHODS
TOP
 ABSTRACT
 INTRODUCTION
 MATERIALS AND METHODS
RESULTS
 DISCUSSION
 References
 
This study was designed as a retrospective review. Approval of the institutional review board and patient informed consent are not required by the ethics committee of our institutions for retrospective analysis of patients' records and imaging data.

Patients and Proof of Diagnosis
Data on all patients with Erdheim-Chester disease who received care between 1998 and 2003 in the internal medicine, endocrinology, or radiology department of four university hospitals were collected. Nineteen patients had histologically proved Erdheim-Chester disease with xanthogranulomatous infiltration by foamy histiocytes or lipid-laden macrophages or histiocytes, surrounded by fibrosis. Among these 19 patients, we selected those with immunohistochemical findings demonstrating the presence of non–Langerhans histiocytes markers, namely, positivity for anti-CD68 labeling, little or no protein S100 labeling, and negativity for anti-CD1a labeling.

Eleven patients fulfilled these criteria: eight men and three women (mean age, 49 years; range, 17–68 years). Mean time between the first symptom and the final diagnosis was 27 months (range, 1–60 months). General signs such as altered general health with fatigue, weight loss, or unexplained fever were present in six patients. Erythrocyte sedimentation rate was elevated in nine patients. Bone involvement was asymptomatic in seven patients. Three patients had localized bone pain (knee pain and tibial pain), and one had diffuse bone pain associated with myalgia. No skin or soft-tissue lesions were found over the sites of bone pain. Bone biopsy (in femora in three patients and in tibiae in three patients) confirmed the diagnosis of Erdheim-Chester disease in six patients. The diagnosis of Erdheim-Chester disease was confirmed with a biopsy of the perirenal or retroperitoneal spaces in three patients, a myocardial biopsy in one patient, and a biopsy of a sinus mass in the remaining patient.

Imaging
All patients underwent conventional radiography of the skeleton, including anteroposterior (AP) and lateral views of the skull; AP and lateral views of the spine; oblique views of the ribs; AP view of the pelvic bone; AP and lateral views of the humeri, radii, ulnae, femora, tibiae, and fibulae; and AP views of the hands and feet. All patients underwent technetium 99m bone scintigraphy. Seven patients underwent MR imaging (Signa, GE Medical Systems, Milwaukee, Wis; or Intera NT 9.5.2, Philips, Eindhoven, the Netherlands) of the lower limbs at 1.5 T with a torso phased-array coil or a knee dual phased-array coil. Transverse, coronal, and sagittal sequences were performed for all MR imaging examinations with various imaging parameters depending on the imaging system.

Imaging included T1-weighted spin-echo sequences (repetition time msec/echo time msec, 340–700/9–18; field of view, 16–36 x 16–36 cm; matrix, 192–256 x 256–512; section thickness, 2–4 mm; and interval, 0–1 mm) and T2-weighted fast spin-echo sequences with fat suppression (1800–3000/30–50; turbo spin-echo factor, six to 15; field of view, 16–26 x 16–36 cm; matrix, 192–256 x 240–512; section thickness, 2–4 mm; and interval, 0–2 mm). Four patients also underwent T1-weighted spin-echo imaging with fat suppression (420–340/9–11; field of view, 16–26 x 16–26 cm; matrix, 192–256 x 256–512; section thickness, 2–4 mm; and interval, 0–1 mm) after intravenous injection of 0.1 mmol of gadopentetate dimeglumine (Dotarem; Guerbet, Aulnay-sous-Bois, France) per kilogram of body weight.

One patient underwent brain and face MR imaging (Signa) at 1.5 T with the following sequences: T1-weighted spin-echo sequence in the coronal plane (400/8; field of view, 24 x 18 cm; matrix, 512 x 224; section thickness, 5 mm; and interval, 1.5 mm); T2-weighted fast spin-echo sequence in the transverse plane (3450/100; echo train length, 16; field of view, 24 x 24 cm; matrix, 320 x 256; section thickness, 5 mm; and interval, 1.5 mm); and T1-weighted spin-echo sequence after intravenous injection of 0.1 mmol of gadopentetate dimeglumine per kilogram of body weight in the transverse and coronal planes (400/8; field of view, 24 x 18 cm; matrix, 512 x 224; section thickness, 5 mm; and interval, 1.5 mm).

Two patients underwent CT of the femora with a helical CT scanner (HiSpeed Advantage; GE Medical Systems) (gantry rotation time, 0.8–1.0 second; reconstructed section thickness, 2.5–3.0 mm; and beam pitch, 0.938:1). Ten patients underwent CT of the skull with a multi–detector row CT scanner (LightSpeed QX/I, GE Medical Systems; or Somatom Sensation, Siemens, Erlangen, Germany; or HiSpeed Advantage) with reconstructed section thickness of 5 mm.

Analysis of Images
Images, including radiographs, MR images, and CT scans, were reviewed in consensus by four musculoskeletal radiologists (E.D., C.G., A.M., and J.D.L., who had 15, 3, 7, and 24 years of experience in musculoskeletal imaging, respectively). Readers knew about the diagnosis of Erdheim-Chester disease but had no information about clinical, biologic, or radiologic data at the time of the analysis. Radiographs of the long bones were analyzed according to the following criteria: bone segments involved (diaphysis, metaphysis, or epiphysis and the proximal or distal parts), as well as their distribution (unilateral or bilateral and symmetric or asymmetric); osteosclerosis (absent, homogeneous, or heterogeneous); osteolysis (absent or present); periostitis, defined as a wavy contour of the outer cortical margin (absent or present); cortical bone thickening (absent, moderate, or marked); bone marrow cavity (normal or narrowed); cortical bone–medullary cavity margin (normal or blurred); and radiolucent band between metaphysis and epiphysis (present or absent).

MR images were analyzed according to the following criteria: bone segments involved (diaphysis, metaphysis, or epiphysis); distribution of the lesions (unilateral or bilateral and symmetric or asymmetric); and bone marrow appearance (normal, homogeneous replacement, or heterogeneous replacement and whether bone marrow replacement was exhibiting decreased signal intensity on T1-weighted images and increased signal intensity on T2-weighted and contrast material–enhanced images relative to normal fatty marrow). Periostitis was defined as a band of high signal intensity on T2-weighted images and gadolinium-enhanced fat-saturated spin-echo T1-weighted images along the outer margin of the cortex. Associated findings such as bone infarcts or osteoarthritis were also noted.

CT images were analyzed according to the following criteria: bones and segments of bone involved, osteosclerosis (present or absent), and osteolysis (present or absent).


   RESULTS
TOP
 ABSTRACT
 INTRODUCTION
 MATERIALS AND METHODS
 RESULTS
DISCUSSION
 References
 
Conventional Radiographic Findings
All 11 patients underwent conventional radiography of the skeleton. Findings in the 11 patients are summarized in Table 1. Diaphysis was involved in all patients and metaphysis in 44 (83%) of the 53 bones involved. In 52 (26 pairs) (98%) of the 53 long bones, involvement was bilateral and symmetric (Fig 1). Only one patient had, in addition to bilateral tibial lesions, a unilateral lesion of the left femur consisting of a moderate diaphyseal periostitis. Cortical thickening with reduced corticomedullary cavity and blurring of corticomedullary differentiation were present in 50 (94%) bones (Fig 1). Partial epiphyseal involvement was present in 24 (45%) of the 53 bones involved. A radiolucent band separating the metaphyseal and epiphyseal osteosclerosis at the site of the line of fusion of the growth cartilage was seen in four bones (Fig 2). The axial skeleton (spine and pelvic bones) and the hands and feet were spared in all patients.


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  		Table 1. Skeletal Radiographic Findings in 11 Patients with Erdheim-Chester Disease

 

Figure 1
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  		Figure 1: AP radiograph of two legs in a 52-year-old man. Bone involvement is bilateral and symmetric and consists of diaphyseal and metaphyseal heterogeneous osteosclerosis (white arrow). Shape of the tibia is tubular because of thickening of the cortex on both its endosteal and periosteal aspects. Corticomedullary margins in the diaphysis are blurred, and the marrow cavity is obliterated (black arrow).

 

Figure 2
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  		Figure 2: AP radiograph of two legs in a 36-year-old woman shows symmetric osteosclerosis of both tibiae, which also involves the proximal and distal epiphyses. A radiolucent band (arrows) separates metaphyseal and epiphyseal osteosclerosis.

 
Bone Scintigraphic Findings
In the 11 patients, increased tracer uptake was present in all 53 (100%) lesions visible on conventional radiographs. In addition, bone scintigraphy demonstrated an area of increased uptake in a long bone with no corresponding radiographic abnormality in one patient.

MR Imaging Findings
MR imaging of the lower limbs was performed in seven patients, and MR imaging of the brain was performed in one patient. Findings regarding the lower limbs are summarized in Table 2. Findings of MR imaging of the lower limbs showed replacement of the normal fatty bone marrow of the diaphyseal and metaphyseal bone segments by a markedly low signal intensity (hypointense compared with muscle and heterogeneous signal intensity on T1-weighted spin-echo images) and by a heterogeneous intermediate or high signal intensity (isointense or hyperintense compared with muscle) on fat-suppressed T2-weighted images (Figs 3 , 4). Areas of high signal intensity on T2-weighted images enhanced after gadolinium injection. Epiphyseal involvement was clearly visible at MR imaging (Figs 3–5) and appeared as a homogeneous infiltrate sparing the subchondral bone (Figs 4, 5) or as a heterogeneous infiltrate (Fig 3). In such patients, focal areas of fatty marrow often persisted, especially in the metaphyseal area (Fig 5c). Even in patients with involvement of the epiphysis, the subchondral bone was preserved (Figs 4, 5).


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  		Table 2. Findings at MR Imaging of the Lower Limbs in Seven Patients with Erdheim-Chester Disease

 

Figure 3
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  		Figure 3a: (a) Oblique radiographs of distal femora in a 44-year-old woman show diaphyseal and metaphyseal heterogeneous osteosclerosis. Distal femora are enlarged, and periostitis is visible as a wavy contour (arrows) of the outer cortex. (b) Coronal T1-weighted spin-echo (350/15) MR image of both knees demonstrates symmetric low signal intensity of diaphyses and metaphyses. (c) Fat-suppressed T2-weighted spin-echo (2000/80) and (d) fat-suppressed gadolinium-enhanced T1-weighted spin-echo (340/15) MR images show heterogeneous signal intensity in the same areas. Epiphyses are partially involved with persistent fatty areas. Periostitis is visible as a line of high signal intensity at the outer aspect of femoral cortices (arrow). Osteoarthritis was also present and responsible for joint effusion and synovitis.

 

Figure 3
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  		Figure 3b: (a) Oblique radiographs of distal femora in a 44-year-old woman show diaphyseal and metaphyseal heterogeneous osteosclerosis. Distal femora are enlarged, and periostitis is visible as a wavy contour (arrows) of the outer cortex. (b) Coronal T1-weighted spin-echo (350/15) MR image of both knees demonstrates symmetric low signal intensity of diaphyses and metaphyses. (c) Fat-suppressed T2-weighted spin-echo (2000/80) and (d) fat-suppressed gadolinium-enhanced T1-weighted spin-echo (340/15) MR images show heterogeneous signal intensity in the same areas. Epiphyses are partially involved with persistent fatty areas. Periostitis is visible as a line of high signal intensity at the outer aspect of femoral cortices (arrow). Osteoarthritis was also present and responsible for joint effusion and synovitis.

 

Figure 3
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  		Figure 3c: (a) Oblique radiographs of distal femora in a 44-year-old woman show diaphyseal and metaphyseal heterogeneous osteosclerosis. Distal femora are enlarged, and periostitis is visible as a wavy contour (arrows) of the outer cortex. (b) Coronal T1-weighted spin-echo (350/15) MR image of both knees demonstrates symmetric low signal intensity of diaphyses and metaphyses. (c) Fat-suppressed T2-weighted spin-echo (2000/80) and (d) fat-suppressed gadolinium-enhanced T1-weighted spin-echo (340/15) MR images show heterogeneous signal intensity in the same areas. Epiphyses are partially involved with persistent fatty areas. Periostitis is visible as a line of high signal intensity at the outer aspect of femoral cortices (arrow). Osteoarthritis was also present and responsible for joint effusion and synovitis.

 

Figure 3
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  		Figure 3d: (a) Oblique radiographs of distal femora in a 44-year-old woman show diaphyseal and metaphyseal heterogeneous osteosclerosis. Distal femora are enlarged, and periostitis is visible as a wavy contour (arrows) of the outer cortex. (b) Coronal T1-weighted spin-echo (350/15) MR image of both knees demonstrates symmetric low signal intensity of diaphyses and metaphyses. (c) Fat-suppressed T2-weighted spin-echo (2000/80) and (d) fat-suppressed gadolinium-enhanced T1-weighted spin-echo (340/15) MR images show heterogeneous signal intensity in the same areas. Epiphyses are partially involved with persistent fatty areas. Periostitis is visible as a line of high signal intensity at the outer aspect of femoral cortices (arrow). Osteoarthritis was also present and responsible for joint effusion and synovitis.

 

Figure 4
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  		Figure 4a: (a) Coronal T1-weighted spin-echo (340/15) and (b) fat-saturated T2-weighted spin-echo (2000/80) MR images of two knees in a 54-year-old man. Diffuse low signal intensity on T1-weighted images and intermediate signal intensity on T2-weighted images are visible in diaphysis and metaphysis of distal femora and proximal tibiae. The fatty marrow of the subchondral bone is preserved with well-defined margins (arrows).

 

Figure 4
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  		Figure 4b: (a) Coronal T1-weighted spin-echo (340/15) and (b) fat-saturated T2-weighted spin-echo (2000/80) MR images of two knees in a 54-year-old man. Diffuse low signal intensity on T1-weighted images and intermediate signal intensity on T2-weighted images are visible in diaphysis and metaphysis of distal femora and proximal tibiae. The fatty marrow of the subchondral bone is preserved with well-defined margins (arrows).

 

Figure 5
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  		Figure 5a: (a) AP and (b) lateral radiographs and (c) coronal and (d) sagittal T1-weighted spin-echo (340/15) MR images of the left knee in a 45-year-old man. Epiphysis involvement is clearly depicted as an area of low signal intensity on the MR images. Areas of fatty marrow are preserved in the subchondral bone and metaphyses (arrows).

 

Figure 5
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  		Figure 5b: (a) AP and (b) lateral radiographs and (c) coronal and (d) sagittal T1-weighted spin-echo (340/15) MR images of the left knee in a 45-year-old man. Epiphysis involvement is clearly depicted as an area of low signal intensity on the MR images. Areas of fatty marrow are preserved in the subchondral bone and metaphyses (arrows).

 

Figure 5
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  		Figure 5c: (a) AP and (b) lateral radiographs and (c) coronal and (d) sagittal T1-weighted spin-echo (340/15) MR images of the left knee in a 45-year-old man. Epiphysis involvement is clearly depicted as an area of low signal intensity on the MR images. Areas of fatty marrow are preserved in the subchondral bone and metaphyses (arrows).

 

Figure 5
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  		Figure 5d: (a) AP and (b) lateral radiographs and (c) coronal and (d) sagittal T1-weighted spin-echo (340/15) MR images of the left knee in a 45-year-old man. Epiphysis involvement is clearly depicted as an area of low signal intensity on the MR images. Areas of fatty marrow are preserved in the subchondral bone and metaphyses (arrows).

 
Two patients exhibited centromedullary diaphyseal and metaphyseal lesions consisting of well-defined and irregular sclerotic rims of low signal intensity on both T1- and T2-weighted MR images; these findings were consistent with bone infarcts. These lesions were bilateral in the femora and tibiae in one patient and unilateral in a femur in another patient.

One patient had a large soft-tissue mass that had developed into the maxillary sinus and was associated with osseous involvement of the orbital walls that exhibited dense heterogeneous enhancement on a gadolinium-enhanced T1-weighted image (Fig 6).


Figure 6
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  		Figure 6a: MR images of the brain and face in a 48-year-old man. (a) Coronal T1-weighted spin-echo (340/12) image shows a large sinus mass (arrow) extending into orbits and associated with bone destruction. (b, c) Gadolinium-enhanced T1-weighted spin-echo (340/12) images in (b) coronal and (c) transverse planes show intense heterogeneous enhancement of the mass (arrow in b).

 

Figure 6
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  		Figure 6b: MR images of the brain and face in a 48-year-old man. (a) Coronal T1-weighted spin-echo (340/12) image shows a large sinus mass (arrow) extending into orbits and associated with bone destruction. (b, c) Gadolinium-enhanced T1-weighted spin-echo (340/12) images in (b) coronal and (c) transverse planes show intense heterogeneous enhancement of the mass (arrow in b).

 

Figure 6
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  		Figure 6c: MR images of the brain and face in a 48-year-old man. (a) Coronal T1-weighted spin-echo (340/12) image shows a large sinus mass (arrow) extending into orbits and associated with bone destruction. (b, c) Gadolinium-enhanced T1-weighted spin-echo (340/12) images in (b) coronal and (c) transverse planes show intense heterogeneous enhancement of the mass (arrow in b).

 
CT Findings
Two patients underwent CT of the femora. In both patients, CT of the femora helped confirm cortical thickening and showed heterogeneous sclerosis of the cancellous bone (Fig 7). Ten patients underwent CT of the skull. In two patients, involvement of the maxillary, sphenoid, and frontal bones was seen at CT. Bone erosions associated with a large sinus mass were seen in one patient. Osteosclerosis and thickening of the orbital walls and sphenoid and frontal bones were seen in the other patient.


Figure 7
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  		Figure 7a: (a) AP radiograph of the distal femur and knee, (b) transverse CT image, and (c) fat-suppressed T2-weighted spin-echo (2000/40) MR image obtained through the distal femur in a 63-year-old man. Heterogeneous osteosclerosis of the cancellous bone is clearly depicted on b (arrow). Heterogeneous high signal intensity is visible in the femur epiphysis, while signal intensity of the patella is normal on c.

 

Figure 7
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  		Figure 7b: (a) AP radiograph of the distal femur and knee, (b) transverse CT image, and (c) fat-suppressed T2-weighted spin-echo (2000/40) MR image obtained through the distal femur in a 63-year-old man. Heterogeneous osteosclerosis of the cancellous bone is clearly depicted on b (arrow). Heterogeneous high signal intensity is visible in the femur epiphysis, while signal intensity of the patella is normal on c.

 

Figure 7
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  		Figure 7c: (a) AP radiograph of the distal femur and knee, (b) transverse CT image, and (c) fat-suppressed T2-weighted spin-echo (2000/40) MR image obtained through the distal femur in a 63-year-old man. Heterogeneous osteosclerosis of the cancellous bone is clearly depicted on b (arrow). Heterogeneous high signal intensity is visible in the femur epiphysis, while signal intensity of the patella is normal on c.

 

   DISCUSSION
TOP
 ABSTRACT
 INTRODUCTION
 MATERIALS AND METHODS
 RESULTS
 DISCUSSION
References
 
We report the radiologic, scintigraphic, MR imaging, and CT appearances of skeletal involvement in a series of 11 patients with Erdheim-Chester disease, with emphasis on some aspects that, to our knowledge, have not been described yet: periostitis, partial epiphyseal involvement, and association with bone infarcts. To our knowledge, there is only one reported series (5) of five patients on bone manifestations of Erdheim-Chester disease. Bone involvement is an almost constant finding in Erdheim-Chester disease, since, to our knowledge, there is only one case report (16) with normal radiographs of the skeleton at diagnosis. Bone involvement is asymptomatic in at least 60% of patients (2,9).

Ten of the 11 patients in the present series exhibited the typical distribution of skeletal changes, with bilateral and symmetric involvement of the long bones of the lower limbs predominating around the knee, that is, the lower part of the femora and the upper part of the tibiae (2,4,5,7). Also in agreement with the literature (2), the long bones of the upper limbs were less frequently involved and exhibited milder abnormalities than the lower limbs. Four lesions were located in the humeri and three in the forearms. In patients with involvement of the forearms, both the radius and cubitus were concerned. Diaphysis was involved in 100% and metaphysis in 83% of the 53 long bones involved in our series. Overall, the proximal and distal metaphyses of the long bones were involved with an equal frequency.

Osteosclerosis of the cancellous bone was heterogeneous in 65% of the long bones involved, with multiple lucent foci less than 1 cm in diameter disseminated within the sclerotic bone, creating a heterogeneous speckled appearance (2,3). The remaining lesions exhibited homogeneous osteosclerosis with the appearance of compact bone (5). Apposition of bone at the endosteal aspect of the cortical bone, which resulted in cortical thickening and blurring of the corticomedullary margin (3,17), was seen in all but one of the long bones involved in this series. Marrow cavities were even completely obliterated in advanced cases.

Bone involvement was easily detected in our patients. However, the recognition of early bone changes on conventional radiographs strongly relies on the quality of the radiographs. In such early cases, detection may rely on bone scintigraphy (2), which may reveal radiographically silent bone involvement with the characteristic bilateral and symmetric metaphyseal and diaphyseal involvement of long bones (18–20).

The axial skeleton was spared in all but two of our 11 patients, one with osteosclerosis of the facial bones and the other with a large frontal sinus mass with bone erosions. Involvement of the cranial vault (21), sternum and spine (7,22), ribs (2,23–25), iliac bone (26), and mandible (13,25) has been reported.

A literature review of reported cases shows that two distinct patterns of bone involvement can be observed in Erdheim-Chester disease: the typical diffuse skeletal involvement, with symmetric sclerosis of the long bones (2,3,9), and focal pseudotumoral lesions, which can involve bone and visceral organs (27–30). These pseudotumoral lesions may exhibit a variable degree of osteolysis, cortical destruction, and soft-tissue mass (14,27,28), as in one patient in the present series whose lesion involved the frontal sinus. Fewer than 10% of the reported cases are purely focal lytic lesions without perilesional osteosclerosis (9). Two separate cases of biopsy- and immunohistochemically proved osteolytic vertebral lesions in Erdheim-Chester disease have been reported. One case was associated with an iliac sclerotic lesion and spared the long bones (22). In the other patient, liver and paraspinal lesions were present (27). Several other cases with lytic lesions of the axial skeleton were reported before the introduction of immunohistochemical tests or received no pathologic confirmation (9,23,31,32). Osteolytic lesions of the axial skeleton are more characteristic of Langerhans cell histiocytosis. Two transitional cases with both biopsy-proved osteolytic Langerhans cell histiocytosis lesions and diffuse sclerotic involvement of long bones characteristic of Erdheim-Chester disease have been reported (33,34).

MR imaging is helpful in evaluating the degree of cancellous bone involvement. In the present case series, as well as in previous case reports (2,6,7,9,13–15), the normal fatty bone marrow is replaced by a heterogeneous tissue exhibiting low signal intensity on T1-weighted images and intermediate to high signal intensity on T2-weighted images according to the respective amount of fibrous and edematous components. In the four patients in our series who underwent gadolinium-enhanced imaging, bone marrow areas that exhibited high signal intensity on T2-weighted MR images enhanced with a slightly heterogeneous pattern. Such areas of high signal intensity on T2-weighted and gadolinium-enhanced images suggest active lesions (30,34).

Our patients also exhibited some findings that to our knowledge have not been reported, namely, periostitis, partial epiphyseal involvement, and association with bone infarcts. In 66% of the 53 bone lesions in our series, periostitis was depicted on radiographs as a wavy contour of the outer cortical margin. A case with periosteal bone production has been reported (3), but otherwise this feature has not been described as such in Erdheim-Chester disease to our knowledge. On fat-suppressed T2-weighted images (five patients) and fat-suppressed contrast-enhanced T1-weighted MR images (four patients), a high-signal-intensity line suggestive of active periostitis was visible along the outer cortex. Epiphyses are typically spared in Erdheim-Chester disease (9). However, partial involvement of at least one epiphysis of the long bones was present in 45% of our 11 patients, as well as in some previously reported cases (3,7). Involvement extended to the epiphysis from the metaphysis through the growth plate. In such patients, a radiolucent band corresponding to the line of fusion of growth cartilage may separate metaphyseal and epiphyseal osteosclerosis on conventional radiographs (3). The frequency of epiphyseal involvement is probably underestimated, and in some reported cases, involvement of the epiphysis, although not mentioned, is visible on the radiographs, MR images, or bone scans (5,14,17,19,20,30,33,35).

Metaphyseal and diaphyseal images suggestive of bone infarcts in femora and tibiae were seen in two patients of our series. Bilateral images of bone infarct were reported once in Erdheim-Chester disease (32). Tropism of blood vessels with periadventitial infiltration, which may result in vascular obstruction and ischemia, is one of the well-described characteristics of Erdheim-Chester disease (12,36). In a biopsy sample of a tibia with Erdheim-Chester disease involvement, Kim et al (36) found a coagulative type of necrosis with shadows of xanthogranulomatous cellular infiltration suggestive of vascular obstruction.

The main limitation of the current study was its retrospective format. All patients underwent radiography of the skeleton, but only seven underwent MR imaging and only two underwent CT of the long bones. Another limitation was the use of consensus reading rather than independent readings and the lack of evaluation of interobserver agreement. Finally, we have no direct histologic proof of periostitis and partial epiphyseal involvement, although these findings were in continuity with lesions typical of Erdheim-Chester disease in other patients with histologic proof of the disease.

In conclusion, we further described the appearance of Erdheim-Chester disease bone lesions in a series of 11 patients and reported two original findings: periostitis and partial involvement of the epiphyses of long bones. A good knowledge of skeletal changes in Erdheim-Chester disease is crucial because of the diagnostic value of bone lesions as opposed to the nonspecificity and diversity of visceral involvement.


   FOOTNOTES
 

Abbreviations: AP = anteroposterior

Authors stated no financial relationship to disclose.

Author contributions: Guarantors of integrity of entire study, E.D., J.D.L.; study concepts/study design or data acquisition or data analysis/interpretation, all authors; manuscript drafting or manuscript revision for important intellectual content, all authors; approval of final version of submitted manuscript, all authors; literature research, E.D., C.G., A.M., D.Z.; clinical studies, E.D., J.H., B.W., Z.A., J.C.P., J.D.L.; statistical analysis, E.D., C.G.; and manuscript editing, E.D., A.M., P.A.G., J.C.P., J.D.L.


   References
TOP
 ABSTRACT
 INTRODUCTION
 MATERIALS AND METHODS
 RESULTS
 DISCUSSION
 References
 

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