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Ophthalmic Pathology Disclosure of Relevant Specialty Conference Case Financial Relationships USCAP requires that all planners (Education Committee) in a position to influence or control the content of CME disclose any relevant financial Patricia Chévez-Barrios, MD relationship WITH COMMERCIAL INTERESTS which they or their Professor of Pathology and Laboratory Medicine and , spouse/partner have, or have had, within the past 12 months, which relates to Weill Cornell Medical College the content of this educational activity and creates a conflict of interest. Pathology and Genomic Medicine, Houston Methodist Hospital

Disclosure of Relevant Financial Relationships Clinical History • 50 year old male with bilateral enlargement of lacrimal glands I have no financial relationships to declare. and orbital proptosis. • Chronic sinusitis. • Tissue from the right lacrimal gland, right orbital mass and left sinus contents.

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Pictures Pre-meeting Pre- meeting

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Pre-Meeting

Diagnosis?

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Clinical Presentation CT Scan

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Biopsies

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IMMUNOHISTOCHEMISTRY IMMUNOHISTOCHEMISTRY

CD3 CD20 IgG IgG4

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S100, CD1a Sinus contents

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More history…. Final Diagnosis

• Recent onset of asthma

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Adult-onset asthma and periocular xanthogranulomas associated with systemic IgG4-related

• Adult-Onset Asthma with Periocular Xanthogranulomas (AAPOX) is a systemic disorder with adult-onset asthma, lymphadenopathy, and periocular xanthogranulomata.

• IgG4-related disease (IgG4-RD) is an immune mediated fibrosing inflammatory condition that can affect almost any organ.

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Orbital xanthogranulomatous disease in Adult-Onset Asthma with Periocular adults Xanthogranulomas • Rare, non- Langerhans (type II) histiocytosis, categorized • features foamy histiocytes, but is limited to the into four syndromes: • superficial dermis. • Adult onset xanthogranuloma (AOX), • AOX is characterized by xanthogranulomatous • Adult-Onset Asthma with Periocular Xanthogranulomas (AAPOX), localized to the anterior orbit, without systemic findings. • Erdheim-Chester Disease (ECD), • AAPOX was first described by Jakobiec et al., in 1993 in a series of • Necrobiotic xanthogranuloma (NBX). patients with and orbital lesions with histopathologic features appearing similar to those seen in ECD. • AAPOX lacks the typical systemic associations of ECD, but have the onset of adult-onset asthma near the time that periocular lesions appear.

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Ophthalmid Differential Diagnosis of IgG4-Related Disease – Ophthalmic AAPOX • ECD often has more posterior orbital and intraconal • IgG4-RD is a systemic inflammatory fibrosing disorder, which involvement than the other syndromes, is the most deadly, and may involve almost every organ. has strong association with the oncogenic BRAF V600E mutation. • Ophthalmic manifestations include: • NBX presents as red-orange papules involving the periorbital • , orbital pseudotumor, eosinophilic angiocentricfibrosis, region 80% of the time. Local involvement may cause scleritis, orbital myositis, scleritis, and nasolacrimal duct obstruction. , proptosis, scarring, and ulceration, but multi-organ involvement has been documented.

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AAPOX and IgG4-RD Take Home Points • 5 definitive cases of AAPOX associated with systemic IgG4-RD 1. Anterior orbital involvement reported by xanthogranulomatous • All patients required long-term treatment with low dose steroids, inflammation or steroid sparing agents such as or rituximab. 2. Adult onsent asthma and • Probably more cases of orbital xanthogranulomatous xanthogranulomata inflammation in adults may be AAPOX and IgG4-RD. 3. Increased in plasma cells 4. IgG4-RD 5. Touton giant cells are negative for S100, CD1a American Journal of Ophthalmology Case Reports 1 (2016) 34e37

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