Erdheim-Chester disease.

[erdheim-chester disease]

Erdheim-Chester disease (ECD ) is a rare (approximately 500 known cases worldwide ), non-inherited , non-Langerhans form of histiocytosis of unknown origin , first described in 1930 . It is characterized by xanthomatous or xanthogranulomatous infiltration of tissues by foamy histiocytes , "lipid-laden " macrophages , or histiocytes , surrounded by fibrosis . Diagnosis of ECD involves the analysis of histiocytes in tissue biopsies : these are typically foamy and CD 68 + CD 1 a- in ECD , whereas in Langerhans cell histiocytosis (LCH ) they are CD 68 + CD 1 a +. ⁹⁹ Technetium bone scintigraphy revealing nearly constant tracer uptake by the long bones is highly suggestive of ECD , and a "hairy kidney " appearance on abdominal CT scan is observed in approximately half of ECD cases . Central nervous system involvement is a strong prognostic factor and an independent predictor of death in cases of ECD . Optimum initial therapy for ECD seems to be administration of interferon α (or pegylated interferon α ), and prolonged treatment significantly improves survival ; however , tolerance may be poor . Cases of ECD present with strong systemic immune activation , involving IFNα , IL -1 /IL 1 -RA , IL -6 , IL -12 , and MCP-1 , consistent with the systemic immune Th-1 -oriented disturbance associated with the disease . More than half of ECD patients carry the BRAF (V 600 E ) mutation , an activating mutation of the proto-oncogene BRAF . A small number of patients harboring this mutation and with severe multisystemic and refractory ECD have been treated with vemurafenib , a BRAF inhibitor , which was proved very beneficial .

Diseases
Validation

Diseases presenting "small number" symptom

adrenal incidentaloma

allergic bronchopulmonary aspergillosis

aromatase deficiency

cadasil

carcinoma of the gallbladder

cohen syndrome

cushing syndrome

dedifferentiated liposarcoma

dentinogenesis imperfecta

dracunculiasis

erdheim-chester disease

focal myositis

gm1 gangliosidosis

hodgkin lymphoma, classical

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

lamellar ichthyosis

legionellosis

liposarcoma

locked-in syndrome

malignant atrophic papulosis

oculocutaneous albinism

oligodontia

omenn syndrome

pleomorphic liposarcoma

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

thoracic outlet syndrome

triple a syndrome

waldenström macroglobulinemia

well-differentiated liposarcoma

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

zellweger syndrome

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