Shields J A, Karcioglu Z A, Shields C L, Eagle R C, Wong S
Ocular Oncology Service, Wills Eye Hospital, Philadelphia, PA 19107.
Arch Ophthalmol. 1991 Jun;109(6):850-4. doi: 10.1001/archopht.1991.01080060114037.
Erdheim-Chester disease is an idiopathic condition characterized by infiltration of the heart, lungs, retroperitoneum, bones, and other tissues by a fibrosing xanthogranulomatous process composed of xanthomatous histiocytes and Touton giant cells. This condition is often fatal, with death due to cardiomyopathy, severe lung disease, or chronic renal failure. Ocular findings with this potentially fatal disease are rare. We report the clinical and histopathologic findings in two cases of bilateral xanthelasmas and bilateral orbital infiltrates in association with Erdheim-Chester disease. The first patient was a 38-year-old man with cardiovascular and renal disease and severe retroperitoneal fibrosis. The massive orbital infiltration produced bilateral blindness. The second patient was a 77-year-old man with severe cardiovascular disease and retroperitoneal fibrosis. The diagnosis was confirmed in both patients with retroperitoneal and orbital biopsies. Both patients had the unusual occurrence of bilateral xanthelasmas with bilateral, diffuse orbital masses, eye findings that should alert the clinician to the possibility of this serious systemic disease.
Erdheim-Chester病是一种特发性疾病，其特征是由含黄色瘤组织细胞和图顿巨细胞构成的纤维性黄色瘤样病变浸润心脏、肺、腹膜后、骨骼及其他组织。这种疾病通常是致命的，死因包括心肌病、严重肺部疾病或慢性肾衰竭。眼部表现对于这种潜在致命性疾病而言较为罕见。我们报告了2例与Erdheim-Chester病相关的双侧睑黄瘤和双侧眼眶浸润的临床及组织病理学表现。首例患者为一名38岁男性，患有心血管和肾脏疾病以及严重的腹膜后纤维化。大量眼眶浸润导致双侧失明。第二例患者为一名77岁男性，患有严重心血管疾病和腹膜后纤维化。两名患者均经腹膜后和眼眶活检确诊。两名患者均出现了双侧睑黄瘤伴双侧弥漫性眼眶肿物这种不寻常的情况，眼部表现应提醒临床医生注意这种严重全身性疾病的可能性。
