IgG4-related Orbital Disease and Its Mimics in a Western Population.

Although chronic inflammatory disorders of the ocular adnexa are relatively common, their pathogenesis is in many cases poorly understood. Recent investigation suggests that many cases of sclerosing orbital inflammation are a manifestation of IgG4-related disease; however, most patients reported have been Asian, and it is not clear whether the results of studies from the Far East can be reliably extrapolated to draw conclusions about Western patients. We evaluated 38 cases previously diagnosed as orbital inflammatory pseudotumor or chronic dacryoadenitis to determine whether our cases fulfill the criteria for IgG4-RD (IgG4-related dacryoadenitis when involving the lacrimal gland, and IgG4-related sclerosing orbital inflammation when involving orbital soft tissue). Fifteen patients had IgG4-related dacryoadenitis or orbital inflammation. These patients included 9 men and 6 women, aged 24 to 77 years (median, 64 y). Lesions involved orbital soft tissue (8 cases), lacrimal gland (6 cases), and canthus (1 case). In 1 case, focal in situ follicular neoplasia was seen in a background of IgG4-RD. In another case, a clonal IGH gene rearrangement was detected. Four patients with IgG4-RD had evidence of IgG4-RD in other anatomic sites. Five patients, 1 man and 4 women, aged 26 to 74 years (median 50 y) had orbital lesions (2 involving lacrimal gland, 3 involving soft tissue) suspicious for, but not diagnostic of, IgG4-RD. Of 16 patients with IgG4-RD or probable IgG4-RD with information available regarding the course of their disease, 11 patients experienced recurrent or persistent orbital disease. However, no patient developed lymphoma, and no patient died of complications of IgG4-RD. Eighteen patients had lesions not representing IgG4-RD. They included 6 male and 12 female individuals aged 6 to 77 years (median, 47 y). These patients had a variety of diseases, including granulomatosis with polyangiitis (3 cases), Rosai-Dorfman disease (1 case), nonspecific chronic inflammation and fibrosis involving lacrimal gland or soft tissue (12 cases), and others. Clinical and pathologic findings among our patients with IgG4-RD involving the orbit are similar to those previously described in Asian patients. Careful evaluation of histologic and immunophenotypic features and clinical correlation are required to distinguish orbital IgG4-RD from other sclerosing inflammatory lesions in the orbit.

Malignant rhabdoid transformation of a longstanding, aggressive, and recurrent orbital angiomyxoma.

A 47-year-old woman presented with a medial orbital tumor initially diagnosed as either a myxoid neurofibroma or myoepithelioma. Over 30 years the tumor recurred seven times and was serially debulked. Careful histopathologic analysis coupled with immunohistochemical studies performed on the last two biopsies established the rare diagnosis of a locally aggressive angiomyxoma (because of its local infiltrative growth) with myofibroblastic features (smooth muscle actin and calponin positivity and desmin negativity). The last recurrence manifested at a shorter interval than the earlier ones, suggesting an accelerating clinical course. By this late stage there was complete blindness, a frozen globe, and extreme, unmeasurable proptosis accompanied by massive chemosis and eyelid fullness. An exenteration was performed, and the orbital contents contained a persistent angiomyxoma, but additionally, another cellular population had emerged-mitotically active cells with a malignant rhabdoid phenotype (round shape, cytoplasmic hyaline/globoid inclusions composed of whorls of compact vimentin filaments as well as epithelial membrane antigen and focal cytokeratin positivity). This is the first orbital case of a rhabdoid transformation of a benign orbital mesenchymal tumor. Shortly after the exenteration, multifocal metastases, notably to the lungs, were found, leading to the introduction of chemotherapy, which was discontinued because of non-responsiveness of the tumor and patient intolerance. After 1 year of follow up, the patient is still alive, but has persistent active disease with widespread metastases and a guarded prognosis.

Radiographic patterns of orbital involvement in IgG4-related disease.

PURPOSE: Immunoglobin G4 (IgG4)-related disease is a systemic condition characterized by lymphoplasmacytic infiltrates that can involve the orbit. The purpose of this study was to identify the various patterns of orbital IgG4-related disease on imaging. METHODS: Retrospective review of radiologic examinations including CT, MRI, and positron emission tomography was performed in patients with proven cases of IgG4-related disease. RESULTS: A total of 9 patients with orbital IgG4-related disease were identified, including 9 with CT, 4 with MRI, and 4 with 18-fluorodeoxyglucose positron emission tomography. Patterns of involvement included lacrimal gland enlargement, lacrimal sac involvement, extraocular muscle thickening, preseptal involvement, orbital fat involvement, and cranial nerve involvement, many of which occurred simultaneously. Associated demineralization of the orbital wall was evident on CT in 2 cases. On T2-weighted MRI, the lesions appeared as hypointense in 2 cases, heterogeneously hypointense to isointense in 1 case, and hyperintense in 1 case. Diffuse enhancement was present in all 3 cases in which postcontrast T1-weighted sequences were available. The lesions were hypermetabolic on positron emission tomography in 3 of 4 cases. There was definite extraorbital involvement by IgG4-related disease in 3 of the 9 patients and suspected involvement in another 3 of the 9 patients. CONCLUSIONS: IgG4-related disease displays a wide variety of imaging manifestations in the orbit. Extraorbital disease is often present and can help suggest the diagnosis.

Orbital pseudotumor--historical origin and modern relevance.

PURPOSE: To translate the original article from German in order to understand what the author was describing when Birch-Hirschfeld first used the diagnosis of orbital pseudotumor in 1905. To study why he used that diagnosis in the context of medical care and orbital diagnosis at the beginning of the twentieth century. Then to determine whether the term still has scientific relevance today. DESIGN: Perspective. RESULTS: In 1905, orbital pseudotumor was used as a term to describe clinical situations in which modern scientific methods would have provided more accurate and specific diagnoses. The original reasons for its use were a consequence of the limitations of medical care at the juncture of the nineteenth and twentieth centuries and the nature of orbital diseases more than a century ago. CONCLUSIONS: Orbital pseudotumor should no longer be used as a diagnosis because it is not based on current scientific knowledge. It is not specific and it hinders the application of diagnoses that are more useful in patient management.

Comparison of free tarsoconjunctival grafts and Hughes tarsoconjunctival grafts for lower eyelid reconstruction.

PURPOSE: To review the use of free autogenous tarsoconjunctival (TC) grafts and Hughes TC flaps in the practice of one of the authors (MJH) and compare complications and outcomes and develop a rationale for the selection of surgical technique. METHODS: Retrospective comparative case series of 70 patients who underwent reconstructive surgery for a major full-thickness lower eyelid defect using a free autogenous TC graft or Hughes TC pedicle flap by one of the authors (MJH). Rates of complications, including erythema of the eyelid margin, eyelid position abnormalities, and need for additional surgeries, were reviewed. RESULTS: During a 15-year period, 70 patients with full-thickness lower eyelid defects were treated with autogenous TC grafts and flaps. The average age of the patients receiving a free TC graft was younger than the average age of patients receiving a Hughes TC graft (63 versus 73 years, p < 0.001). Patients with a free TC graft were more likely to have a smaller eyelid defect than the patients receiving a Hughes TC graft (52% versus 72%, p < 0.001). Patients receiving a free TC graft were less likely to require surgery to repair eyelid margin erythema than those in receiving a Hughes TC flap (one patient [2%] versus 5 patients [19%], respectively [odds ratio = 0.10, confidence interval = 0.01 to 0.95]). The average follow up was 22 months. CONCLUSIONS: Free TC flaps associated with mycocutaneous advancement flaps are less likely to lead to complications of eyelid margin erythema and subsequent revision surgery than Hughes TC flaps with full-thickness skin grafts.