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Erdheim-Chester disease

HP:1166

Erdheim-Chester disease is a very rare xanthogranulomatous, non-Langerhans cell systemic histiocytosis with an unknown etiology and pathogenesis. It involves the marrow space of the long bones. Extraosseous sites most commonly affected include the eyes, lungs, pituitary glands, and kidneys.

Localization

- bones: symmetric osteosclerosis of the long bones

- extraskeletal lesions (more than 50%)

Associations

- A amylosis (11014995)

Microscopical synopsis

- fibrosing xanthogranulomatous infiltration of multiple organs
- diffuse infiltration with large, foamy histiocytes
- rare Touton-like giant cells
- lymphocytic aggregates
- fibrosis and fibrobastic cells
- extensive coagulative necrosis (11469352)

Immunochemistry

- CD68+
- CD1a-
- protein S-100- or S-100+ (10912934)
- factor XIIIa+ (10912934)

Ultrastructure

- lack of Birbeck granules

This study presents the case of a patient with Erdheim-Chester disease with vertebral destruction and, for the first time, to our knowledge, involvement of the liver. The diagnosis is based on radiologic, histologic, immunohistochemical, and ultrastructural findings.

Cytogenetics

- balanced chromosomal translocation t(12;15;20)(q11;q24;p13.3) (17255779)

Differential diagnosis

- histiocytic lesions

- histiocytoid invasive carcinomas

Reference

- Erdheim-chester disease presenting as bilateral clinically malignant breast masses. Provenzano E, Barter SJ, Wright PA, Forouhi P, Allibone R, Ellis IO. Am J Surg Pathol. 2010 Apr;34(4):584-8. PMID: 20216377

- Vencio EF, Jenkins RB, Schiller JL, Huynh TV, Wenger DD, Inwards CY, Oliveira AM. Clonal cytogenetic abnormalities in Erdheim-Chester disease. Am J Surg Pathol. 2007 Feb;31(2):319-21. PMID: 17255779

- Chetritt J, Paradis V, Dargere D, Adle-Biassette H, Maurage CA, Mussini JM, Vital A, Wechsler J, Bedossa P. Chester-Erdheim disease: a neoplastic disorder. Hum Pathol. 1999 Sep;30(9):1093-6. PMID: 10492045

- Egan AJ, Boardman LA, Tazelaar HD, Swensen SJ, Jett JR, Yousem SA, Myers JL. Erdheim-Chester disease: clinical, radiologic, and histopathologic findings in five patients with interstitial lung disease. Am J Surg Pathol. 1999 Jan;23(1):17-26. Review. PMID: 9888700

- Favara BE, Feller AC, Pauli M, Jaffe ES, Weiss LM, Arico M, Bucsky P, Egeler RM, Elinder G, Gadner H, Gresik M, Henter JI, Imashuku S, Janka-Schaub G, Jaffe R, Ladisch S, Nezelof C, Pritchard J. Contemporary classification of histiocytic disorders. The WHO Committee On Histiocytic/Reticulum Cell Proliferations. Reclassification Working Group of the Histiocyte Society. Med Pediatr Oncol. 1997 Sep;29(3):157-66. PMID: 9212839

Keywords

  • Disease