{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T06:09:17Z","timestamp":1789711757687,"version":"4.0.1"},"reference-count":16,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:00:00Z","timestamp":1789689600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>\n                    Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm driven by MAPK pathway mutations. Although it frequently involves the bones, heart, and kidneys, initial manifestations predominantly affecting the gastrointestinal tract and mesentery are exceedingly rare, often leading to significant delays in clinical diagnosis. This report describes a 61-year-old female patient who presented with recurrent abdominal pain over several months and was initially diagnosed with a conventional \u201cadhesive bowel obstruction\u201d at an external hospital. However, surgical exploration revealed a classic \u201cabdominal cocoon\u201d presentation and symptoms showed no significant improvement postoperatively. Abdominal CT upon admission revealed diffuse thickening of the peritoneum, omentum, and mesentery with substantial peritoneal and pelvic effusion. Laboratory findings revealed autoimmune serological abnormalities, including positive ANA, anti-SSA, and anti-Ro-52 antibodies, without characteristic clinical manifestations of a defined connective tissue disease. Pathological review of resected specimens revealed extensive foamy histiocytic proliferation in the small intestine and greater omentum, with immunohistochemical findings supporting ECD and molecular confirmation of the\n                    <jats:italic>\n                      BRAF\n                      <jats:sup>V600E<\/jats:sup>\n                    <\/jats:italic>\n                    mutation. Systemic PET-CT further delineated multisystem infiltration, and bone marrow evaluation ruled out the possibility of overlapping myeloid tumors. Following multidisciplinary team (MDT) confirmation, the patient received vemurafenib-based targeted therapy, together with hydroxychloroquine following rheumatologic evaluation for the associated immunological abnormalities, resulting in substantial clinical improvement. This case highlights a rare gastrointestinal manifestation of ECD mimicking a surgical disorder and underscores the importance of integrating imaging, pathology, and molecular testing in patients with atypical intestinal manifestations.\n                  <\/jats:p>","DOI":"10.3389\/fimmu.2026.1866684","type":"journal-article","created":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T05:38:22Z","timestamp":1789709902000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Erdheim-Chester disease presenting as abdominal cocoon syndrome"],"prefix":"10.3389","volume":"17","author":[{"given":"Fangfang","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Gastroenterology, Zhongnan Hospital of Wuhan University","place":["Wuhan, Hubei, China"]},{"name":"Shenzhen Qianhai Taikang Hospital","place":["Shenzhen, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Zhongnan Hospital of Wuhan University","place":["Wuhan, Hubei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, Zhongnan Hospital of Wuhan University","place":["Wuhan, Hubei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yili","family":"Dai","sequence":"additional","affiliation":[{"name":"The Second Clinical College of Wuhan University","place":["Wuhan, Hubei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Zhongnan Hospital of Wuhan University","place":["Wuhan, Hubei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Ye","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Zhongnan Hospital of Wuhan University","place":["Wuhan, Hubei, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minhu","family":"Chen","sequence":"additional","affiliation":[{"name":"Shenzhen Qianhai Taikang Hospital","place":["Shenzhen, Guangdong, China"]},{"name":"Department of Gastroenterology, The First Affiliated Hospital, Sun Yat-sen University","place":["Guangzhou, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,18]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","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":"B2","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1007\/BF01942684","article-title":"\u00dcber lipoidgranulomatose","volume":"279","author":"Chester","year":"1930","journal-title":"Virchows Arch Path Anat"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/j.bneo.2025.100188","article-title":"Epidemiology of Erdheim-Chester disease in the United States: a SEER-based analysis","volume":"3","author":"Tessier","year":"2025","journal-title":"Blood Neoplasia"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019002766","article-title":"Erdheim-chester disease","volume":"135","author":"Haroche","year":"2020","journal-title":"Blood"},{"key":"B5","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1007\/s12105-025-01803-0","article-title":"Erdheim-Chester disease of the jaws: a case report and review of the literature","volume":"19","author":"Omari","year":"2025","journal-title":"Head Neck Pathol"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1097\/01.md.0000145368.17934.91","article-title":"Cardiovascular involvement, an overlooked feature of Erdheim-Chester disease: report of 6 new cases and a literature review","volume":"83","author":"Haroche","year":"2004","journal-title":"Med (Baltimore)"},{"key":"B7","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1111\/j.1572-0241.2006.00893.x","article-title":"Biliary manifestation of Erdheim\u2013Chester disease mimicking Klatskin\u2019s carcinoma","volume":"102","author":"Gundling","year":"2007","journal-title":"Off J Am Coll Gastroenterol | ACG"},{"key":"B8","doi-asserted-by":"publisher","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":"B9","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2016001784","article-title":"The clinical spectrum of Erdheim-Chester disease: an observational cohort study","volume":"1","author":"Estrada-Veras","year":"2017","journal-title":"Blood Adv"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1002\/art.22280","article-title":"Immunohistochemical evidence of a cytokine and chemokine network in three patients with Erdheim\u2010Chester disease: Implications for pathogenesis","volume":"54","author":"Stoppacciaro","year":"2006","journal-title":"Arthritis Rheum"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2022.849578","article-title":"A patient with Erdheim-Chester disease presenting with intestinal obstruction as the initial symptom: a case report","volume":"12","author":"Zhou","year":"2022","journal-title":"Front Oncol"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2026.1729112","article-title":"Age-related changes in circulating immune factors reveal biomarkers of immunosenescence","volume":"13","author":"Zhang","year":"2026","journal-title":"Front Med (Lausanne)"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-01-761718","article-title":"High prevalence of myeloid neoplasms in adults with non\u2013Langerhans cell histiocytosis","volume":"130","author":"Papo","year":"2017","journal-title":"Blood"},{"key":"B14","doi-asserted-by":"publisher","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":"B15","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-07-446286","article-title":"Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutationvemurafenib","volume":"121","author":"Haroche","year":"2013","journal-title":"Blood"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-025-02526-5","article-title":"Efficacy of MEK inhibitors in Erdheim-Chester disease: impact of MAPK pathway pathogenic variants","volume":"39","author":"Acosta-Medina","year":"2025","journal-title":"Leukemia"}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fimmu.2026.1866684\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T05:38:23Z","timestamp":1789709903000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fimmu.2026.1866684\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,18]]},"references-count":16,"alternative-id":["10.3389\/fimmu.2026.1866684"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2026.1866684","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,18]]},"article-number":"1866684"}}