2020–2021 BCSC Basic and Clinical Science Course™
7 Oculofacial Plastic and Orbital Surgery
Part I: Orbit
Chapter 5: Orbital Neoplasms and Malformations
Adult xanthogranuloma of the adnexa and orbit is often associated with systemic manifestations. These manifestations are the basis for classification into the following 4 syndromes, presented in their order of frequency.
Necrobiotic xanthogranuloma (NBX). This disorder is characterized by the presence of subcutaneous lesions in the eyelids and anterior orbit; lesions may also occur throughout the body. Although skin lesions are seen in all 4 syndromes, those occurring in NBX have a propensity for ulceration and fibrosis. Systemic findings frequently include paraproteinemia and multiple myeloma.
Adult-onset asthma with periocular xanthogranuloma (AAPOX). This syndrome includes periocular xanthogranuloma, asthma, lymphadenopathy, and, often, increased levels of immunoglobulin G.
Erdheim-Chester disease (ECD). The most devastating of the adult xanthogranulomas, ECD (Fig 5-20) is characterized by dense, progressive, recalcitrant fibrosclerosis of the orbit and internal organs, including the mediastinum; the pericardium; and the pleural, perinephric, and retroperitoneal spaces. Whereas xanthogranuloma of the orbit and adnexa tends to be anterior in NBX, AAPOX, and AOX, it is often diffuse in ECD and leads to vision loss. Bone involvement is common, and the syndrome often is fatal, despite aggressive therapies.
Adult-onset xanthogranuloma (AOX). AOX is an isolated xanthogranulomatous lesion without systemic involvement. Juvenile xanthogranuloma is a separate non-Langerhans histiocytic disorder that occurs as a self-limited, corticosteroid-sensitive, and usually focal subcutaneous disease of childhood. See BCSC Section 6, Pediatric Ophthalmology and Strabismus, for additional discussion of juvenile xanthogranuloma.
Satchi K, McNab AA, Godfrey T, Prince HM. Adult orbital xanthogranuloma successfully treated with rituximab. Ophthalmology. 2014;121(8):1664–1665.
Sivak-Callcott JA, Rootman J, Rasmussen SL, 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.
Figure 5-20 Erdheim-Chester disease. T1-weighted MRI axial (A) and coronal (B) views show diffuse infiltration of a mass in the intraconal space bilaterally. C, X-ray of the femur shows lytic bone lesions (arrows).D, H&E stain of the lesion demonstrates numerous foamy histiocytes.
(Courtesy of Don O. Kikkawa, MD.)
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.