To examine the clinico-pathological and radiological†features of a cohort of patients with adult xanthogranulomatous disease of the orbit and ocular adnexa, a rare but potentially serious disease.
The clinical files of 8 patients with adult xanthogranulomatous disease of the orbit and ocular adnexa who presented over a 20 year period to a tertiary referral hospital were reviewed. Radiological, histopathological and immunohistochemical data was also collected. †
Patients from all four subtypes of adult xanthogranulomatous disease were included. Periocular features included cutaneous xanthogranulomatous lesions, proptosis, diplopia, skin ulceration, cicatricial ectropion and mechanical ptosis. Systemic features included adult-onset asthma, disseminated xanthogranulomatous lesions with bone involvement and haematological disturbances†including†monoclonal gammopathy and lymphoplasmacytic lymphoma. Histopathological findings were similar between all subtypes and included lipid-laden macrophages and Touton multinucleated giant cells.†75% of lesions tested were positive for IgG4,†further illustrating the association of IgG4 and xanthogranulomatous disorders†(although not explaining the basis of the association).†Radiologically, lesions were diffuse and infiltrative in nature.
Adult xanthogranulomatous disease of the orbit and ocular adnexa is a group of rare diseases that may be sight or life-threatening. It is comprised of 4 clinical entities: Adult-onset xanthogranuloma (AOX), Adult-onset asthma and periocular xanthogranuloma (AAPOX), necrobiotic xanthogranuloma (NBX) and Erdheim-Chester disease (ECD). Various treatments have been attempted with varying success including surgical excision, systemic and intralesional corticosteroids, other immunosuppressants and systemic chemotherapy. Systemic associations are potentially life threatening and recognition by the ophthalmologist is critical as periocular features often constitute the initial presentation.