文献简介

出版社:JAMA Dermatology

作  者:Jonathan A. Braue, MD; Rami N. Al-Rohil, MBBS

编  号:

关键字:Erdheim-Chester病

年  份:2019   点击量:219

文献摘要 全文翻译

A woman in her 50s with a right lower-eyelid yellow plaque presented with unremitting abdominal and back pain. Computed tomographic (CT) scan of the chest, abdomen, and pelvis demonstrated extensive infiltrative stranding from the thorax through the retroperitoneal space. Sclerotic changes in multiple osseous structures were noted. Idiopathic retroperitoneal fibrosis was diagnosed following biopsies. Prednisone and Azathioprine were started. Biopsy of  the lower-eyelid yellow plaque returned xanthelasma (Figure, A). Ureteral obstruction, chronic kidney disease, and lymphedema complicated her course. Azathioprine was stopped after 1 year. Prednisone was slowly tapered but she relapsed 3 years later. A second retroperitoneal biopsy exhibited fibroadipose tissue, foamy macrophages, and chronic inflammation with fibrosis. Azathioprine and prednisone were restarted. She required multiple surgeries for spinal stenosis and ureteral obstruction. Her kidney function continued declining. Then, owing to knee pain, a plain radiograph was obtained which demonstrated osteosclerosis of the distal femur. Consequently, the previous eyelid and retroperitoneal biopsies were reviewed. The clinicopathologic presentation was confirmed with a molecular test.

患者女性,50余岁,右下眼睑黄色斑块,伴腹部和背部持续疼痛。胸部、腹部和骨盆CT扫描示胸腔经腹膜后间隙广泛浸润。可见多个骨结构硬化改变。活检后诊断为特发性腹膜后纤维化。患者开始使用泼尼松和硫唑嘌呤治疗。下眼睑黄色斑块活检显示为黄色瘤复发(图A)。输尿管梗阻、慢性肾病和淋巴水肿使患者病程复杂化。1年后患者停用硫唑嘌呤,并逐渐较少泼尼松用量,但3年后患者复发。第二次腹膜后活检示纤维脂肪组织、泡沫状巨噬细胞和慢性炎症伴纤维化。患者重新使用硫唑嘌呤和泼尼松,且需多次手术治疗椎管狭窄和输尿管梗阻。患者肾功能持续下降。随后,因膝关节疼痛,平片检查示股骨远端骨硬化。因此,对先前眼睑和腹膜后活检进行了审查。临床病理表现经分子检测证实。