Orbital Granulomatosis With Polyangiitis Mimicking IgG4-Related Disease in a 12-Year-Old Male

• Published in: International journal of surgical pathology Vol. 26; no. 5; pp. 453 - 458
• Main Authors: Drobysheva, Anastasia, Fuller, Julie, Pfeifer, Cory M., Rakheja, Dinesh
• Format: Journal Article
• Language: English
• Published: Los Angeles, CA SAGE Publications 01-08-2018; SAGE PUBLICATIONS, INC
• Subjects: Anti-Bacterial Agents - therapeutic use; Anti-Inflammatory Agents - therapeutic use; Antibodies, Antineutrophil Cytoplasmic - blood; Biopsy; Cellulitis - diagnosis; Cellulitis - drug therapy; Child; Contrast Media - administration & dosage; Diagnosis, Differential; Eyelids - diagnostic imaging; Eyelids - pathology; Granulomatosis with Polyangiitis - blood; Granulomatosis with Polyangiitis - diagnosis; Granulomatosis with Polyangiitis - drug therapy; Granulomatosis with Polyangiitis - pathology; Humans; Inflammatory diseases; Magnetic Resonance Imaging - methods; Male; Neutrophils; Orbit - diagnostic imaging; Orbit - pathology; Orbital Diseases - blood; Orbital Diseases - diagnosis; Orbital Diseases - drug therapy; Orbital Diseases - pathology; Plasma; Treatment Outcome; Vein & artery diseases; IgG4-related disease; Wegener’s granulomatosis; orbital granulomatosis with polyangiitis; orbital mass; orbital pseudotumor; orbital inflammation; ANCA-associated vasculitis
• ISSN: 1066-8969; 1940-2465
• DOI: 10.1177/1066896917754252

Granulomatosis with polyangiitis is rare in children. We report a case of a 12-year-old male who presented with new symptoms of left eyelid swelling and ptosis. Magnetic resonance imaging showed an enhancing orbital mass suspicious for a neoplasm. Excisional biopsy was performed. Microscopic examination revealed fibrovascular tissue with dense collagenous fibrosis and mixed inflammatory infiltrate that included many plasma cells. Many small and medium-sized blood vessels showed granulomatous and necrotizing vasculitis with disruption of the vessel walls and fibrinoid necrosis. Immunostain for IgG highlighted the numerous plasma cells, approximately 50% of which were positive for IgG4 immunostain. A diagnosis of granulomatosis with polyangiitis was suggested, with recommendation of serologic testing for anti-neutrophil cytoplasmic antibodies. Serum anti-neutrophil cytoplasmic antibodies were borderline high with a cytoplasmic staining pattern. The patient improved with steroid and methotrexate therapy. Granulomatosis with polyangiitis can present as an orbital mass in up to 30% of children. It may be misdiagnosed as IgG4-related disease since the inflammatory background in both conditions may be rich in plasma cells with a high proportion of IgG4+ plasma cells, and accompanied by fibrosis and obliterated blood vessels. The differential diagnosis in this location should also include inflammatory pseudotumor and inflammatory myofibroblastic tumor. Knowledge of this unusual manifestation of granulomatosis with polyangiitis and its diagnostic pitfalls can facilitate early diagnosis and treatment.