Introduction:
Erdheim-Chester Syndrome is a rare type of non-Langerhans cell histiocytosis. This
inflammatory multisystemic disease shows symptoms like bone pain, exophthalmos, neurological
deficits, as well as damage of the kidneys and the cardiovascular system. Diagnosis
is confirmed by histopathology based on infiltrates with CD68-positive and CD1a-negative
histiocytes. The treatment of systemic manifestations consists of interferon-α, corticosteroids,
cytostatic agents or tyrosine-kinase inhibitors.
Case report:
The presented patient is a 56-years old male who showed an infraorbital mass on the
left side. In addition, he suffered from rheumatic complaints including fever and
unspecific bone changes of the lower extremities. A cMRI showed an opacification of
the left paranasal sinuses and a mass within the left orbit. Biopsies were taken through
an infraorbital approach and a functional endoscopic sinus surgery of the left maxillary
sinus. The histopathological examination showed CD86-positive and CD1a-negative histiocytes.
The retrospective reevaluation of bone biopsies taken 3 years ago was consistent with
the diagnosis. The staging was completed with a full body MRI.
Conclusion:
The findings are consistent with Erdheim-Chester syndrome. An interferon-α therapy
was initiated because of his BRAF-negative status. Histopathological evaluation of
a unilateral sinusitis is necessary to exclude life-threatening diseases. Without
treatment five-year survival rate is below 40% which was raised up to 68% by introducing
interferon-alpha treatment.
