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 ADOI: 10.12659/AJCR.931060
Am J Case Rep 2021; 22:e931060
Table 1. Cases of ECD without radiographic skeletal findings.
| Authors | Sex, age | Clinical presentation | Radiologic investigations | Histology | BRAF-V600E |
|---|---|---|---|---|---|
| Lee et al. (2018) | M, 60 | Moderate cough | CT: anterior mediastinal mass and at follow-up, internal thoracic lymph nodes | Proliferation of atypical histiocytes with sclerosis that were positive for CD68 and negative for S100 and CD1a | − |
| Salama et al. (2017) | M, 34 | Polyuria, polydipsia, xantelasmas, unsteadiness, weakness, slurred speech, and difficulty in walking and standing up | CT: 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 uptake | Infiltration with xanthomatous histiocytes and Touton multinucleated giant cells, positive for CD68 and negative for S100 and CD1a | + |
| Gaspar et al. (2017) | F, 24 | During puerperium presents fever, rash and jaundice | CT: hepatosplenomegaly | Sheets of foamy histiocytes and numerous Touton giant cells were positive for CD68 and negative for S100 and CD1a | − |
| Dickson et al. (2008) | F, 32 | History of hereditary hemorrhagic telangiectasia. After a few months, hypoalbuminemia, anasarca, anemia, ascites, diabetes mellitus, hypothyroidism, right exophthalmos, ataxia, and dysarthria were the symptoms presented | MRI cerebral: left posterior fossa mass | Sheets 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 fibrosis | Not possible for extensive DNA degradation |
| Sheu et al. (2004) | M, 48 | Diabetes insipidus and hypogonadism. Two years later, progressive dyspnea with pleural effusion, and serum creatinine raised to 26 mg/L for fibrosis in the retroperitoneal space | MRI cerebral: 5-mm thickened pituitary stalk | Xanthogranulomatous nephritis, retroperitoneal fibrosis, foamy histiocytes positive for CD68 and negative for S100 and CD1a | Not mentioned |
| Rao et al. (2005) | M, 68 | Cough and pleuritic chest pain | CT: prominent interstitial septal markings | Xanthomatous histiocytic infiltrates (positive for CD68, factor XIIIa, weakly and focally positive for S100) in the bone marrow interspersed with hematopoietic cells and hemophagocytosis | Not mentioned |
| CT – computed tomography; MRI – magnetic resonance imaging; PET – positron emission tomography. | |||||