• Carola M Gagliardo, Antonina Giammanco, Augusto Vaglio, Francesco Pegoraro, Angelo B Cefalù, Maurizio Averna, and Davide Noto.
• Department of Health Promotion, Maternal and Child Health, Internal and Specialized Medicine of Excellence "G. D. Alessandro" (PROMISE), University of Palermo, Palermo, Italy.
• Medicine (Baltimore). 2024 Apr 26; 103 (17): e37870e37870.

RationaleErdheim-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.Patient ConcernsA 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.DiagnosesA xanthelasma biopsy showed histopathological signs compatible with ECD; genetic analysis showed the mutation BRAFV600E.InterventionsThe 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.OutcomesAt the 1-year follow-up, there was only progression of chronic kidney disease (CKD).LessonsThe 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.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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