Table 1 Characteristic features of Erdheim-Chester disease
From: Erdheim-Chester disease with bilateral orbital masses and multi-systemic symptoms: two case reports
Organ involvement | Frequency | Characteristic feature |
|---|---|---|
Bones | 95% | Osteosclerosis at the metadiaphysis of bones around the knee, axial skeleton, and small bones of the feet [4] |
Endocrine | 50–70% | Diabetes insipidus, anterior pituitary hormonal deficiencies, and hyperprolactinemia [5] |
Arterial | 50–80% | Periaortic infiltration “coated aorta”; infiltration of the supra-aortic trunk branches, visceral arteries, renal artery stenosis, and coronary arteries [6] |
Respiratory | 50% | Mediastinal infiltration; pleural, septal, and maxillary sinus thickening [6] |
Cardiac | 40–70% | Pericardial infiltration and effusion, right atrial pseudotumor, and atrioventricular sulcus [7] |
Retroperitoneum | 40–50% | Perinephric infiltration “hairy kidneys”; hydronephrosis and adrenal infiltration [4] |
Nervous system | 40% | Cognitive impairment, ataxia, and peripheral neuropath; brainstem/cerebellum masses; cerebral white matter enhancement; and dural and pituitary stalk thickening [6] |
Orbit | 30% | Orbital masses [3] |
Dermatologic | 25% | Xanthelasma-like lesions around the eyes, face, neck, and inguinal folds [8] |
Testes | 3–5% | May occur as a hybrid/overlap disease with RDD [5] |