Erdheim-Chester Syndrome – a rare differential diagnosis of a unilateral opacification of the paranasal sinuses

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.

Publication History

Publication Date:
23 April 2019 (online)