Adult Orbital and Adnexal Xanthogranulomatous Disease.

PURPOSE

Adult xanthogranulomatous disease of the orbit and ocular adnexa is a rare disease that can cause serious morbidity and mortality. Ophthalmologists are commonly the first clinicians to come in contact with affected patients and an understanding of the clinical features is essential.

DESIGN

We present a retrospective case series of patients seen in the oculoplastic unit of a large tertiary referral hospital over a 20-year period.

METHODS

The clinical files of 7 patients with adult xanthogranulomatous disease of the orbit and ocular adnexa were reviewed. Clinical, radiological, histopathological, and immunohistochemical findings were examined.

RESULTS

Periocular clinical features included cutaneous xanthogranulomatous lesions, decreased visual acuity, proptosis, diplopia, skin ulceration, cicatricial ectropion, and mechanical ptosis. Systemic features included adult-onset asthma, disseminated xanthogranulomatous lesions with long bone involvement, and hematological disturbances such as monoclonal gammopathy and lymphoplasmacytic lymphoma. Lipid-laden macrophages and Touton multinucleated giant cells were histological hallmarks in all subtypes. Most lesions were strongly CD8 positive on immunohistochemistry. Radiologically, the lesions were diffuse and infiltrative in nature. Various treatments were employed with varying success including surgical excision, systemic and intralesional corticosteroids, other immunosuppressants, and systemic chemotherapy.

CONCLUSIONS

Adult xanthogranulomatous disease of the orbit and ocular adnexa, although rare, may be sight or life threatening. Recognition by the ophthalmologist is critical as periocular features often constitute the initial presentation.