Case report:
A 50-year-old woman with a history of hypothyroidism, presented with a
recurrent pain and swelling of the left knee and the right breast.
Physical examination found high blood pressure, normal cardiac
auscultation and a normal EKG. Pulmonary auscultation found fine
crackles in both lower lobes with no history of cough or breathlessness.
The abdomen examination found hepatomegaly. No enlarged peripheral lymph
nodes neither thyroid nodules were found. She had xanthelasma of the
right upper eyelid, an erythematous plaque of the inferior medial
quadrant of the left breast with no nodules or mass.
Standard radiography of the knee showed an osteolytic and heterogenous
lesion of the proximal tibia and fibula metaphyses.
Bone
scintigraphy showed increased
tracer uptake of the humeri diaphysis, both iliac bones, distal femora
extremity and tibias (figure 1a,1b,1c). Echography of thyroid glands
showed pseudo-nodular heterogenous lesions.
The computed tomography (CT)
showed a small pericardial effusion and a moderate encapsulated right
pleural thickening and effusion associated to a bilateral and diffuse
septal thickening and a micronodule in the apical segment of the upper
right pulmonary lobe. It also showed an infiltrative process of
subcutaneous tissues of the breasts, tissular infiltration in the
retroperitoneum, tissue thickening around the aorta from its thoracic
portion to the sub-renal portion along with tissue infiltration of the
inferior vena cava and the kidney pedicules and peri-renal fascia
thickening and ureteral dilation. The CT also showed hepatomegaly
(Figure 2a,2b,2c). Mammography was normal. Pulmonary function tests
found a mixed pattern (forced vital capacity: 47%) with reversible
obstruction.
During the disease course the patient had an ischemic stroke in the
territory of the middle cerebral artery confirmed by magnetic resonance
imaging (MRI) that showed no other abnormalities, the cardiac echography
showed a small pericardial effusion and no atrioventricular mass. Our
patient had no central nervous system neither ocular involvement as
demonstrated by cerebral MRI imaging.
The biopsy of the retroperitoneum tissue thickening showed fibrosis with
inflammatory infiltrate including foamy macrophages along with Touton
giant cells. Pleural biopsy found fibrotic pachypleuritis.
Immunohistochemistry was positive
for CD68 and negative for CD1a and PS100 (Figure 3a, 3b, 3c).
The clinical presentation and the histopathologic aspects corroborated
the diagnosis of ECD.
Because of the multi-organ involvement, the patient received a treatment
regimen of prednisone at the dose of 1mg/kg/day with infusion of
infliximab 5m/kg/ 6 weeks associated to 15 mg per week of methotrexate.
The follow up was mainly by clinical assessment and a PET-CT is intended
within 6 months of treatment.