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04 June 2021: Articles

Xanthomatous Inflammatory Infiltrate Involving the Spleen: An Unusual Presentation of Erdheim-Chester Disease and Review of the Literature

Rare disease

Gioia Di Stefano ** , Massimo Granai * , Francesco Giudici B , Giuliana Roselli B , Stefano Lazzi A , Raffaella Santi A

DOI: 10.12659/AJCR.931060

Am J Case Rep 2021; 22:e931060

Table 1. Cases of ECD without radiographic skeletal findings.

AuthorsSex, ageClinical presentationRadiologic investigationsHistologyBRAF-V600E
Lee et al. (2018)M, 60Moderate coughCT: anterior mediastinal mass and at follow-up, internal thoracic lymph nodesProliferation of atypical histiocytes with sclerosis that were positive for CD68 and negative for S100 and CD1a
Salama et al. (2017)M, 34Polyuria, polydipsia, xantelasmas, unsteadiness, weakness, slurred speech, and difficulty in walking and standing upCT: hairy kidney sign, anterior retroperitoneal mass, soft tissue thickening of the right atrioventricular sulcus and the right atrium posteriorly Brain MRI: uniform cerebellar loss Cardiac MRI: mass in the right atrium PET: intense hypermetabolic uptake in the muscle and skin of the anterior chest and abdominal wall and left axillary and inguinal lymph nodes as well as perinephric and cerebella uptakeInfiltration with xanthomatous histiocytes and Touton multinucleated giant cells, positive for CD68 and negative for S100 and CD1a+
Gaspar et al. (2017)F, 24During puerperium presents fever, rash and jaundiceCT: hepatosplenomegalySheets of foamy histiocytes and numerous Touton giant cells were positive for CD68 and negative for S100 and CD1a
Dickson et al. (2008)F, 32History of hereditary hemorrhagic telangiectasia. After a few months, hypoalbuminemia, anasarca, anemia, ascites, diabetes mellitus, hypothyroidism, right exophthalmos, ataxia, and dysarthria were the symptoms presentedMRI cerebral: left posterior fossa massSheets of foamy macrophages (CD68+, CD163+, HAM-56+, S100– and CD1a–)combined with a smaller number of lymphocytes, plasma cells, and occasional Touton-type giant cells interspersed with mild to moderate fibrosisNot possible for extensive DNA degradation
Sheu et al. (2004)M, 48Diabetes insipidus and hypogonadism. Two years later, progressive dyspnea with pleural effusion, and serum creatinine raised to 26 mg/L for fibrosis in the retroperitoneal spaceMRI cerebral: 5-mm thickened pituitary stalkXanthogranulomatous nephritis, retroperitoneal fibrosis, foamy histiocytes positive for CD68 and negative for S100 and CD1aNot mentioned
Rao et al. (2005)M, 68Cough and pleuritic chest painCT: prominent interstitial septal markingsXanthomatous histiocytic infiltrates (positive for CD68, factor XIIIa, weakly and focally positive for S100) in the bone marrow interspersed with hematopoietic cells and hemophagocytosisNot mentioned
CT – computed tomography; MRI – magnetic resonance imaging; PET – positron emission tomography.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923