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Woman referred for discoloration over upper eyelid
An indurated yellow mass was found, extending just superior to the lid crease from the medial canthal region laterally to the area of the lacrimal gland.
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A 39-year-old white woman was referred to the New England Eye Center for evaluation of a new onset of discoloration over her right upper eyelid. The discoloration had been present over the past 7 months and had not changed in appearance over that time. She remembered an episode of minor trauma within the past year in which her 6-year-old son’s head struck her above the right brow, which did not break the skin. She otherwise denied pain, diplopia, subjective proptosis or vision changes.
 Isabel M. Balderas |  Tom Hsu | ||
The patient’s review of systems was unremarkable. Her ocular history was also noncontributory. She was healthy and not currently taking any prescription medications or eye drops. The patient denied smoking or alcohol intake.
Examination
On examination, the patient’s best corrected Snellen visual acuity was 20/20 in both eyes. IOP, extraocular motility and pupillary examination were normal in both eyes. There was no afferent pupillary defect in either eye. Exophthalmometry measured 21 mm in the right eye and 20 mm in the left eye, with a base of 90 mm.
External exam revealed mild mechanical ptosis of the right upper lid (Figure 1). Margin reflex distance was 3.5 mm in the right eye and 4 mm in the left eye. The right upper lid had an indurated yellow lesion extending just superior to the lid crease from the medial canthal region laterally to the area of the lacrimal gland. There was no tenderness to palpation.
 External photograph showing yellow right upper lid discoloration and mild mechanical ptosis. Image: Chaturvedi V Image: Chaturvedi V |
Slit lamp and dilated fundus examinations of both eyes were unremarkable. Imaging with CT scan at an outside hospital revealed anterior soft tissue swelling of the right upper lid possibly also involving the lacrimal gland. With all of the above information, an anterior orbitotomy was performed with biopsy specimens taken from the orbital lobe of the lacrimal gland and overlying skin. Pathology revealed xanthomized histiocytes with small nuclei. Furthermore, there were several Touton giant cells identified with no areas of necrosis.
What is your diagnosis?
Upper lid mass
The differential diagnosis of a palpable upper lid mass with skin discoloration is extensive. Given the palpable nature of the lesion, lacrimal gland tumors must be considered (eg, pleomorphic adenoma). The skin discoloration adds the diagnoses of xanthelasma and amyloid into the differential. Further, the history of trauma should invoke the idea of fat necrosis or a ruptured cyst (eg, dermoid cyst). Inflammatory syndromes such as thyroid eye disease and especially idiopathic orbital inflammatory syndrome are always potential causes of lesions such as this. Finally, systemic conditions affecting the eyelids, including Wegener’s granulomatosis, scleroderma and lupus, must be entertained.
In this case, the biopsy allowed for accurate diagnosis, which was achieved by an anterior orbitotomy approach. The anterior orbitotomy begins with the surgeon making a skin incision in the lateral aspect of the eyelid crease. After this, blunt dissection of the orbicularis muscle allows the surgeon to encounter the orbital septum. With Wescott scissors cutting through the orbital septum, the surgeon has access to the orbital lobe of the lacrimal gland for biopsy.
Discussion
The final diagnosis in our patient was orbital xanthogranuloma. Orbital xanthogranuloma is a rare disorder in which histiocytic cells are filled with lipid material. Patients commonly present with symptoms in their 40s or 50s. There is no sex predilection, and bilateral cases are more common than unilateral. The most common presenting features are diffuse, nodular yellow plaques on the eyelid skin. However, given the variable anterior orbital locations, there can be a spectrum of other presenting symptoms (eg, proptosis, pain, scleritis, etc.).
There are four adult types of orbital xanthogranuloma: adult onset, adult onset with asthma, Erdheim-Chester and necrobiotic (Table 1). The systemic associations with orbital xanthogranuloma are paraproteinemia, leukopenia, cryoglobulinemia, complement deficiency, multiple myeloma, non-Hodgkin’s lymphoma, diabetes and lipid disorders.
Although there are the four types of xanthogranuloma, they all typically present with anterior orbital lesions. Adult onset without asthma patients have disease localized only to the eye. Adult onset with asthma features patients with systemic lymphadenopathy of no significance and adult onset of asthma. Both of these forms of xanthogranuloma carry a good overall prognosis.
Erdheim-Chester and necrobiotic forms of xanthogranuloma have more systemic findings. Erdheim-Chester is the only adult onset xanthogranuloma presenting with intraconal disease. These patients also have long bone sclerosis and retroperitoneal fibrosis, which typically is the cause of their morbidity and mortality. Necrobiotic xanthogranuloma is often associated with multiple myeloma, lymphoma and other dysproteinemias.
The pathology of xanthogranuloma, as in this case, has characteristic lipid laden histiocytes and Touton giant cells. The histiocytes penetrate deeper than the dermis. Unfortunately, the pathology findings alone cannot subclassify the different types of xanthogranuloma. The clinician must combine the pathological findings and correlate it with their clinical exam.
Patients with xanthogranuloma need to have an extensive review of systems focusing on the respiratory and hematologic symptoms. Along with this, they need to be referred to their primary care physician for the remainder of their workup.
The lid lesions most common in these patients are typically treated with intralesional triamcinolone. Although the dosage is not consistently quoted in the literature, patients typically achieve excellent control of their chief symptoms and signs (nodularity, swelling and skin color). Patients usually will need multiple injections. With repeated injections, the risk of complications, including eyelid necrosis, elevated IOP, linear subcutaneous fat atrophy, adrenal suppression, and central retinal and ophthalmic artery occlusion, must be addressed with patients. With these in mind, patients’ vision should be checked immediately after the injection, and they should also have their IOP monitored at each subsequent visit.
For more information:
- Vivek Chaturvedi, MD, and Mitesh Kapadia, MD, can be reached at New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston, MA 02111; 617-636-4219; fax: 617-636-4866; Web site: www.neec.com.
- Edited by Isabel M. Balderas, MD, and Tom Hsu, MD. Drs. Balderas and Hsu can be reached at New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston, MA 02111; 617-636-4219; fax: 617-636-4866; Web site: www.neec.com. Drs. Balderas and Hsu have no direct financial interest in the products mentioned in this article, nor are they paid consultants for any companies mentioned.
References:
- Elner VM, Mintz R, Demirci H, Hassan AS. Local corticosteroid treatment of eyelid and orbital xanthogranuloma. Trans Am Ophthalmol Soc. 2005;103:69-73; discussion 73-74.
- Karcioglu ZA, Sharara N, Boles TL, Nasr AM. Orbital xanthogranuloma: Clinical and morphologic features in eight patients. Ophthal Plast Reconstr Surg. 2003;19(5):372-381.
- Rose GE, Patel BC, Garner A, Wright JE. Orbital xanthogranuloma in adults. Br J Ophthalmol. 1991;75(11):680-684.
- Sivak-Callcot JA, Rootman J, et al. Adult xanthogranulomatous disease of the orbit and ocular adnexa: New immunohistochemical findings and clinical review. Br J Ophthalmol. 2006;90(5):602-608.