A 26-year-old female patient attended our department for bilateral oedema of the upper eyelids, which had been present for 2 years.
Ophthalmological examination revealed lesions of imprecise limits (infiltrative aspect of the epidermis) on the nasal part of both upper eyelids, with an orange hue in the temporal area, firm in consistency, and extending along the eyelid crease. They were non-motile, non-painful masses that did not extend beyond the orbital rim. The rest of the examination was normal.
In order to try to make a differential diagnosis between entities such as orbital pseudotumour, collagen disease, sarcoidosis, etc., a systemic examination was performed, and all the results were normal.
Magnetic resonance imaging (MRI) of the orbit showed that the masses were practically symmetrical and even infiltrated the levator muscle of the upper eyelid, without affecting the eyeball.
Corticosteroid treatment was started (thinking of an inflammatory process located at the eyelid level), with high doses of methylprednisolone (1 g of Urbason®, HOECHST FARMA), which reduced the size of the tumours, but with recurrence of the tumours when this medication was discontinued. In view of this, and not having reached a diagnosis, an incisional biopsy was performed, obtaining three pieces of pinkish-yellowish tissue. Histological examination showed lax connective tissue, almost all of which was infiltrated by histiocytic cells characteristic of xanthogranulomatosis, which tended to form a granulomatous pattern. Immunohistochemical staining for histiocytic cells (CD 68) was positive.
This led to a diagnosis of palpebral xanthogranulomatosis.
Further tests were performed to rule out multi-organ involvement: abdomino-thoracic CT, cranial and orbital CT, chest X-ray, abdomino-pelvic ultrasound and bone scan with Tc 99m diphosphate. All were normal.
It is therefore a case of pure orbital xanthogranulomatosis, or Erdheim-Chester disease, with no systemic manifestations.
At present, after a new course of corticosteroids (methylprednisolone 80 mg/24 hours, Urbason®) and with a maintenance dose (methylprednisolone 4 mg/48 hours, Urbason®) on a continuous basis, the process remains relatively stable.