[Persistent facial swelling of unclear etiology. The differential diagnostic considerations]

A 54-year-old, obese woman suffered from massive symmetrical swelling of the face, especially of the upper and lower eyelids. Initially the swelling occurred intermittently, but after 2 years it was permanent and progressive markedly limiting her visual fields. Neither laboratory findings nor imaging procedures provided any firm evidence of an underlying cardiac, renal or endocrinological disease. There was no suggestion of a storage disease. Skin biopsy showed foam cells and granulomatous inflammation, so the patient was tentatively diagnosed as having a monosymptomatic Melkersson-Rosenthal Syndrome. Eyelid surgery was performed to improve her visual fields. Treatment with clofazimine 100 mg daily was initiated. Regular follow-up visits over 7 months revealed no evidence of recurrence. The patient died a sudden cardiac death a few months later. The relatives refused an autopsy. The definite cause of her facial swelling remains unclear as we discuss the differential diagnostic possibilities.