International Journal of Colorectal Disease

, Volume 22, Issue 11, pp 1401–1404 | Cite as

Localised massive tumourous xanthomatosis of the small intestine

  • N. Melling
  • E. Bruder
  • A. Dimmler
  • W. Hohenberger
  • T. Aigner
Case Report

Abstract

Introduction

There are various disorders of the intestine described with accumulations of vacuolated macrophages including single or multiple xanthelasmata, Wolman’s disease, cholesteryl ester storage disease (CESD), xanthomatogranulomatotic disease and xantheloma disseminatum.

Clinical case

In this paper, we report on an exceptional case of a 68-year-old male patient with a localised, massive accumulation of vacuolated, most likely lipid-loaded macrophages with an infiltrative pattern in the muscularis mucosa and propria of the small intestine leading to a tumourous mass requiring surgical removal due to impaired gut function. No enlargement of the liver or the spleen and no evidence of general abnormal lipid storage were detected elsewhere. No evidence of Wolman’s or CESD was present. Also, on the ultra-structural level, the macrophages contained no cholesterol clefts typical for either Wolman’s and CESD. Instead, largely empty, partly large vacuoles were seen, which most likely contained fatty acids removed during processing.

Discussion

The pathogenetic mechanism of the massive local accumulation of histiocytic cells in this part of the intestine in our case remains un-clear. In summary, this case demonstrates that on rare occasions histiocytic proliferations can mimic tumourous masses with severe functional impairment of the intestine and thus should be in the differential diagnosis of gastrointestinal motility disorders.

Keywords

Xanthomatosis Intestine 

References

  1. 1.
    Hisanaga Y, Akaike Y, Kuroda K (2004) Xanthoma disseminatum with large plaques confined to the back, pulmonary involvement and multiple intestinal xanthomas. Dermatology 208:164–166CrossRefPubMedGoogle Scholar
  2. 2.
    Abramov A, Schorr S, Wolman M (1956) Generalized xanthomatosis with calcified adrenals. AMA J Dis Child 91:282–286PubMedGoogle Scholar
  3. 3.
    Anderson RA, Byrum RS, Coates PM, Sando GN (1994) Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proc Natl Acad Sci USA 91:2718–2722CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Boldrini R, Devito R, Biselli R, Filocamo M, Bosman C (2004) Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy. Pathol Res Pract 200:231–240CrossRefPubMedGoogle Scholar
  5. 5.
    Anderson RA, Rao N, Byrum RS, Rothschild CB, Bowden DW, Hayworth R, Pettenati M (1993) In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2–q23.3. Genomics 15:245–247CrossRefPubMedGoogle Scholar
  6. 6.
    Du H, Sheriff S, Bezerra J, Leonova T, Grabowski GA (1998) Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease. Mol Genet Metab 64:126–134CrossRefPubMedGoogle Scholar
  7. 7.
    Oh YH, Seong SS, Jang KS, Chung YW, Paik CH, Park YW, Han DS (2005) Xanthogranulomatous inflammation presenting as a submucosal mass of the sigmoid colon. Pathol Int 55:440–444CrossRefPubMedGoogle Scholar
  8. 8.
    Scheiman J, Elta G, Colturi T, Nostrant T (1988) Colonic xanthomatosis. Relationship to disordered motility and review of the literature. Dig Dis Sci 33:1491–1494CrossRefPubMedGoogle Scholar
  9. 9.
    Romeu J, Rybak B (1979) Lipid proctitis. N Engl J Med 301:1099–1100CrossRefPubMedGoogle Scholar
  10. 10.
    Beutler SM, Fretzin DF, Jao W, Desser R (1978) Xanthomatosis resembling scleroderma in multiple myeloma. Arch Pathol Lab Med 102:567–571PubMedGoogle Scholar
  11. 11.
    Goldring MB (2005) Human chondrocyte cultures as models of cartilage-specific gene regulation. Methods Mol Med 107:69–95PubMedPubMedCentralGoogle Scholar
  12. 12.
    Boruchowicz A, Rey C, Fontaine M, Martin-Ponthieu A, Lecomte-Houcke M, West AB, Colombel JF (1997) Colonic xanthelasma due to glyceride accumulation associated with an adenoma. Am J Gastroenterol 92:159–161PubMedGoogle Scholar
  13. 13.
    Bejarano PA, Aranda-Michel J, Fenoglio-Preiser C (2000) Histochemical and immunohistochemical characterization of foamy histiocytes (muciphages and xanthelasma) of the rectum. Am J Surg Pathol 24:1009–1015CrossRefPubMedGoogle Scholar
  14. 14.
    Coletta U, Sturgill BC (1985) Isolated xanthomatosis of the small bowel. Hum Pathol 16:422–424CrossRefPubMedGoogle Scholar
  15. 15.
    Roberts KM, Parsons MA (1987) Xanthogranulomatous cholecystitis: clinicopathological study of 13 cases. J Clin Pathol 40:412–417CrossRefPubMedPubMedCentralGoogle Scholar
  16. 16.
    Pinocy J, Lange A, Konig C, Kaiserling E, Becker HD, Krober SM (2003) Xanthogranulomatous cholecystitis resembling carcinoma with extensive tumorous infiltration of the liver and colon. Langenbecks Arch Surg 388:48–51PubMedGoogle Scholar
  17. 17.
    Goodman MD (1997) Segmental xanthomatosis of the ileocecal valve with anatomic and functional obstruction. Arch Pathol Lab Med 121:75–78PubMedGoogle Scholar

Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • N. Melling
    • 1
  • E. Bruder
    • 2
  • A. Dimmler
    • 3
  • W. Hohenberger
    • 1
  • T. Aigner
    • 4
  1. 1.Department of SurgeryUniversity of Erlangen-NurembergErlangenGermany
  2. 2.Institute of PathologyUniversity of BaselBaselSwitzerland
  3. 3.Department of PathologyUniversity of Erlangen-NurembergErlangenGermany
  4. 4.Institute of PathologyUniversity of LeipzigLeipzigGermany

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