Davies Michael J, Whitehead Kevin, Quagliotto Gary, Wood Dominic, Patheja Rajan S, Sullivan Timothy J
Department of Ophthalmology, Concord Hospital, Concord, New South Wales, Australia.
Sullivan Nicolaides Pathology, Bowen Hills, Queensland, Australia.
Asia Pac J Ophthalmol (Phila). 2017 Sep-Oct;6(5):435-443. doi: 10.22608/APO.2017246. Epub 2017 Aug 22.
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.
We present a retrospective case series of patients seen in the oculoplastic unit of a large tertiary referral hospital over a 20-year period.
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.
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.
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.
成人眼眶及眼附属器黄色肉芽肿病是一种罕见疾病，可导致严重的发病和死亡。眼科医生通常是首批接触受影响患者的临床医生，了解其临床特征至关重要。
我们呈现了一家大型三级转诊医院眼整形科在20年期间诊治的患者的回顾性病例系列。
回顾了7例成人眼眶及眼附属器黄色肉芽肿病患者的临床病历。检查了临床、放射学、组织病理学和免疫组化结果。
眼周临床特征包括皮肤黄色肉芽肿性病变、视力下降、眼球突出、复视、皮肤溃疡、瘢痕性睑外翻和机械性上睑下垂。全身特征包括成人期哮喘、累及长骨的播散性黄色肉芽肿性病变以及血液系统紊乱，如单克隆丙种球蛋白病和淋巴浆细胞淋巴瘤。富含脂质的巨噬细胞和 Touton 多核巨细胞是所有亚型的组织学特征。免疫组化显示大多数病变 CD8 呈强阳性。放射学上，病变本质上是弥漫性和浸润性的。采用了多种治疗方法，效果各异，包括手术切除、全身和病灶内使用皮质类固醇、其他免疫抑制剂以及全身化疗。
成人眼眶及眼附属器黄色肉芽肿病虽然罕见，但可能威胁视力或生命。眼科医生的识别至关重要，因为眼周特征往往是最初的表现。
