{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T13:24:26Z","timestamp":1786973066158,"version":"build-2736575974"},"reference-count":31,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2026,8,16]],"date-time":"2026-08-16T00:00:00Z","timestamp":1786838400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Clin. Med.","JCM"],"abstract":"<jats:p>Background\/Objectives: Erdheim\u2013Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by multisystem infiltration of foamy histiocytes, leading to chronic inflammation, fibrosis, and organ dysfunction. Breast involvement in ECD is extremely uncommon, and the sonographic features of ECD involving the breast remain poorly described. Case Presentation: We report the case of a 59-year-old woman with chronic bone pain and multisystem disease who experienced an extended diagnostic course despite undergoing renal biopsy, biopsy of a right elbow lesion, bone marrow examination, and multidisciplinary evaluation. Breast ultrasound revealed bilateral infiltrative hypoechoic lesions involving the breasts and axillae. These were classified as BI-RADS 4C and were highly suspicious for breast malignancy. Subsequently, an ultrasound-guided core needle biopsy was performed on the breast and axillary lesions. Results: Histopathology showed fibroadipose tissue infiltrated by numerous foamy histiocytes, scattered epithelioid cells, and occasional Touton giant cells. Immunohistochemistry showed positivity for CD68, CD163, CD4, and Cyclin D1, partial positivity for OCT2 and CD30, and negativity for S100, CD1a, Langerin, ALK, CK (Pan), and GATA3. The Ki-67 index was approximately 3%. Molecular testing detected the BRAF V600E mutation, supporting the diagnosis of ECD. A review of reported cases showed that breast involvement in ECD lacks specific ultrasound findings and may closely mimic primary breast malignancy. Conclusions: Breast involvement in ECD is rare and may present as bilateral infiltrative hypoechoic lesions with axillary involvement on ultrasound. In patients with chronic bone pain, symmetric osteosclerosis, or multisystem disease, ECD should be considered in the differential diagnosis. Ultrasound-detected superficial lesions may provide accessible biopsy targets, helping to establish a timely diagnosis and reduce diagnostic delay.<\/jats:p>","DOI":"10.3390\/jcm15166330","type":"journal-article","created":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T12:01:26Z","timestamp":1786968086000},"page":"6330","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Erdheim\u2013Chester Disease with Breast and Axillary Involvement Diagnosed by Ultrasound-Guided Biopsy: A Case Report and Literature Review"],"prefix":"10.3390","volume":"15","author":[{"given":"Juanmei","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Ultrasound, West China Hospital, Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-0083-5459","authenticated-orcid":false,"given":"Ayibota","family":"Ruxian","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, West China Hospital, Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danying","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, West China Hospital, Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Pathology, West China Hospital, Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Buyun","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, West China Hospital, Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,8,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1182\/blood-2014-03-561381","article-title":"Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease","volume":"124","author":"Diamond","year":"2014","journal-title":"Blood"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1182\/blood.2019003507","article-title":"Erdheim-Chester disease: Consensus recommendations for evaluation, diagnosis, and treatment in the molecular era","volume":"135","author":"Goyal","year":"2020","journal-title":"Blood"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1007\/BF01942684","article-title":"\u00dcber Lipoidgranulomatose","volume":"279","author":"Chester","year":"1930","journal-title":"Virchows Arch. Pathol. Anat."},{"key":"ref_4","unstructured":"Jaffe, H.L. (1972). Gaucher\u2019s disease and certain other inborn metabolic disorders: Lipid (cholesterol) granulomatosis. Metabolic, Degenerative and Inflammatory Diseases of Bones and Joints, Lea & Febiger."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1182\/blood-2016-01-643569","article-title":"The 2016 revision of the World Health Organization classification of lymphoid neoplasms","volume":"127","author":"Swerdlow","year":"2016","journal-title":"Blood"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1136\/annrheumdis-2012-202542","article-title":"The multifaceted clinical presentations and manifestations of Erdheim\u2013Chester disease: Comprehensive review of the literature and of 10 new cases","volume":"72","author":"Cavalli","year":"2013","journal-title":"Ann. Rheum. Dis."},{"key":"ref_7","first-page":"3257","article-title":"Erdheim-Chester disease: A comprehensive review","volume":"34","author":"Abdelfattah","year":"2014","journal-title":"Anticancer Res."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1007\/s00256-024-04835-9","article-title":"Radiological assessment of extremity bone involvement in Erdheim-Chester disease: A systematic review of case reports","volume":"54","author":"Azhideh","year":"2025","journal-title":"Skelet. Radiol."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Giardino, F.R., Cuomo, R., Pozzi, M., Marcaccini, G., Bacchini, S., Araby, M.M.E., Grimaldi, L., and Nisi, G. (2023). Erdheim\u2013Chester Disease of the Breast: First Review and First Case of Isolated Severe Gynecomastia. Diagnostics, 13.","DOI":"10.3390\/diagnostics13071239"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"27","DOI":"10.46989\/001c.145180","article-title":"Erdheim-Chester Disease in Adults: 11 Cases from a Canadian Rare Diseases Program","volume":"7","author":"Quon","year":"2025","journal-title":"Clin. Hematol. Int."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"2783","DOI":"10.1182\/blood-2010-10-313510","article-title":"Systemic perturbation of cytokine and chemokine networks in Erdheim-Chester disease: A single-center series of 37 patients","volume":"117","author":"Arnaud","year":"2011","journal-title":"Blood"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1038\/modpathol.2017.160","article-title":"The histopathology of Erdheim\u2013Chester disease: A comprehensive review of a molecularly characterized cohort","volume":"31","author":"Ozkaya","year":"2018","journal-title":"Mod. Pathol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"82","DOI":"10.5334\/jbr-btr.771","article-title":"Erdheim Chester disease presented isolated breast and axillary involvement","volume":"98","author":"Basara","year":"2015","journal-title":"J. Belg. Soc. Radiol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"141","DOI":"10.4048\/jbc.2023.0111","article-title":"Rare Case of a Patient With Erdheim-Chester Disease Presenting With Atypical Breast Involvement","volume":"27","author":"Sprenger","year":"2024","journal-title":"J. Breast Cancer"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"79","DOI":"10.5144\/0256-4947.2017.79","article-title":"A rare case of Erdheim-Chester disease in the breast","volume":"37","author":"Binyousef","year":"2017","journal-title":"Ann. Saudi Med."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1097\/PAS.0b013e3181d39a3d","article-title":"Erdheim-Chester Disease Presenting as Bilateral Clinically Malignant Breast Masses","volume":"34","author":"Provenzano","year":"2010","journal-title":"Am. J. Surg. Pathol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"6407","DOI":"10.1007\/s00210-024-03769-2","article-title":"Recent advances in therapeutic strategies of Erdheim-Chester disease","volume":"398","author":"Doke","year":"2025","journal-title":"Naunyn-Schmiedeberg\u2019s Arch. Pharmacol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1182\/blood.2019002766","article-title":"Erdheim-Chester disease","volume":"135","author":"Haroche","year":"2020","journal-title":"Blood"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"159","DOI":"10.3892\/etm.2024.12447","article-title":"Erdheim-Chester disease of multisystem involvement with delayed diagnosis: A case report and literature review","volume":"27","author":"Shi","year":"2024","journal-title":"Exp. Ther. Med."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.humpath.2014.10.005","article-title":"Erdheim-Chester disease involving the breast\u2014A rare but important differential diagnosis","volume":"46","author":"Guo","year":"2015","journal-title":"Hum. Pathol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1093\/qjmed\/hcae211","article-title":"Breast Erdheim\u2013Chester disease: An unusual presentation of a rare disorder","volume":"118","author":"Jia","year":"2025","journal-title":"QJM Int. J. Med."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.radcr.2024.09.144","article-title":"Erdheim Chester disease presenting as bilateral breast dimpling and discoloration","volume":"20","author":"Oska","year":"2025","journal-title":"Radiol. Case Rep."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"e240011","DOI":"10.1148\/rg.240011","article-title":"Imaging in Erdheim-Chester Disease","volume":"44","author":"Aswani","year":"2024","journal-title":"Radiographics"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"110067","DOI":"10.1016\/j.clinimag.2023.110067","article-title":"Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAF V600E mutation","volume":"106","author":"Nikpanah","year":"2024","journal-title":"Clin. Imaging"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"4324","DOI":"10.1007\/s00261-021-03106-8","article-title":"Urinary involvement in Erdheim-Chester disease: Computed tomography imaging findings","volume":"46","author":"Wu","year":"2021","journal-title":"Abdom. Radiol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1177\/1358863X241228271","article-title":"Cardiovascular manifestations of Erdheim-Chester disease: A narrative review with two cases","volume":"29","author":"Wong","year":"2024","journal-title":"Vasc. Med."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1097\/IOP.0000000000002619","article-title":"Erdheim-Chester disease with eyelid and orbital involvement: A review of treatment modalities at one institution from 2014 to 2022","volume":"40","author":"Sharma","year":"2024","journal-title":"Ophthalmic Plast. Reconstr. Surg."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/j.jaad.2015.11.007","article-title":"Cutaneous manifestations of Erdheim-Chester disease (ECD): Clinical, pathological, and molecular features in a monocentric series of 40 patients","volume":"74","author":"Chasset","year":"2016","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Bartoli, L., Angeli, F., Stefanizzi, A., Fabrizio, M., Paolisso, P., Bergamaschi, L., Broccoli, A., Zinzani, P.L., Gali\u00e8, N., and Rucci, P. (2022). Genetics and clinical phenotype of Erdheim\u2013Chester disease: A case report of constrictive pericarditis and a systematic review of the literature. Front. Cardiovasc. Med., 9.","DOI":"10.3389\/fcvm.2022.876294"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"122692","DOI":"10.1016\/j.lfs.2024.122692","article-title":"Advances in Understanding and Management of Erdheim-Chester Disease","volume":"348","author":"Kulkarni","year":"2024","journal-title":"Life Sci."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.4143\/crt.2022.1535","article-title":"Case Report of Erdheim-Chester Disease Successfully Treated with Pegylated Interferon: A Single-Center Experience","volume":"55","author":"Lim","year":"2023","journal-title":"Cancer Res. Treat."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/15\/16\/6330\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T12:27:11Z","timestamp":1786969631000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/15\/16\/6330"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,16]]},"references-count":31,"journal-issue":{"issue":"16","published-online":{"date-parts":[[2026,8]]}},"alternative-id":["jcm15166330"],"URL":"https:\/\/doi.org\/10.3390\/jcm15166330","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,16]]}}}