Department of Health Promotion, Maternal and Child Health, Internal and Specialized Medicine of Excellence "G. D. Alessandro" (PROMISE), University of Palermo, Palermo, Italy.
Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy.
Medicine (Baltimore). 2024 Apr 26;103(17):e37870. doi: 10.1097/MD.0000000000037870.
Erdheim-Chester disease (ECD) is a rare multisystemic disease characterized by the infiltration of multiple organs by foamy CD68 + CD1a-histiocytes. The genetic background consists of gain-of-function somatic mutations in the mitogen-activated protein kinase pathway. The purpose of the present paper is to make a contribution to the scientific literature on ECD by reporting our experience with a complex clinical case report, along with a concise review of the literature. We discussed the unusual clinical presentation, the complex diagnostic process and the comparison with other published cases.
A 70-year-old man presented with arthralgia due to multiple bone areas of sclerosis, first diagnosed with metastases of a prostatic neoplasm. Sequential thorax-abdomen, femoral and homer contrast-enhanced computed tomography (CT) showed pericardial effusion, pulmonary fibrosis, and perirenal fibrous tissue as "hairy kidneys." He underwent. Three bone biopsies were unsuccessful to reach diagnosis.
A xanthelasma biopsy showed histopathological signs compatible with ECD; genetic analysis showed the mutation BRAFV600E.
The patient underwent targeted therapy with vemurafenib (BRAF-inhibitor), discontinued 2 weeks later due to the onset of a diffuse erythematous papular rash on the trunk and limbs.
At the 1-year follow-up, there was only progression of chronic kidney disease (CKD).
The present case report describes how ECD diagnosis could represent a challenge for clinicians, owing to its heterogeneous clinical presentation. Early diagnosis followed by prompt therapy is essential for modifying the natural history of the disease.
Erdheim-Chester 病（ECD）是一种罕见的多系统疾病，其特征是多器官被泡沫状 CD68+CD1a-histiocytes 浸润。遗传背景包括丝裂原活化蛋白激酶通路的功能获得性体细胞突变。本文的目的是通过报告我们在一个复杂的临床病例报告中的经验，并结合文献复习，为 ECD 的科学文献做出贡献。我们讨论了不常见的临床表现、复杂的诊断过程以及与其他已发表病例的比较。
一名 70 岁男性因多处骨硬化区的关节炎就诊，最初被诊断为前列腺肿瘤的转移。连续进行的胸部-腹部、股骨和 Homer 对比增强 CT 显示心包积液、肺纤维化和肾周纤维组织呈“多毛肾”。他接受了三次骨活检，但均未能确诊。
黄瘤活检显示符合 ECD 的组织病理学特征；基因分析显示 BRAFV600E 突变。
患者接受了 vemurafenib（BRAF 抑制剂）的靶向治疗，但 2 周后因躯干和四肢出现弥漫性红斑丘疹性皮疹而停用。
在 1 年的随访中，仅慢性肾脏病（CKD）进展。
本病例报告描述了 ECD 诊断如何因临床表现异质性而对临床医生构成挑战。早期诊断和及时治疗对于改变疾病的自然病程至关重要。
