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Skeletal Radiology

, Volume 23, Issue 4, pp 253–256 | Cite as

Extraosseous extension of Gaucher cell deposits mimicking malignancy

  • George Hermann
  • Robert Shapiro
  • I. Fikry Abdelwahab
  • Michael J. Klein
  • Gregory Pastores
  • Gregory Grabowski
Articles

Abstract

Two cases are described in which patients with type I Gaucher disease developed extraosseous soft tissue masses consisting of Gaucher cell deposits. In one instance the mass destroyed the posterior cortex of the left distal femur and protruded into the soft tissues. In the second case the lesion involved the proximal tibia and gradually extended into the soft tissues. While the incidence of neoplastic disorder such as lymphoproliferative disease appears to be more common in Gaucher disease patients than in the general population, lesions of benign etiology that mimic these aggressive processes should be considered in the differential diagnosis when cortical destruction with coexisting soft tissue most is found in these patients.

Key words

Gaucher disease Soft tissue mass 

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References

  1. 1.
    Beutler E (1991) Gaucher's disease. Review article. N Engl J Med 325:1354PubMedCrossRefGoogle Scholar
  2. 2.
    Hermann G (1986) Gaucher disease. In: Taveras JM, Ferucci JT (eds) Radiology: Diagnosis-imaging-intervention, vol 5. Lippincott, Philadelphia, 64, 1–9Google Scholar
  3. 3.
    Zimram A, Gelbart T, Westwood B, Grabowski GA, Beutler E (1991) High frequency of the Gaucher disease mutation of nucleotide 1226 among the Ashkenazi Jews. Am J Hum Genet 49:855Google Scholar
  4. 4.
    Beighton P, Goldblatt J, Sacher S (1972) Bone involvement in Gaucher's disease. In: Desnick RJ, Gatt S, Grabowski GA (eds) Gaucher disease. A century of delineation and research. Liss, New York, pp 107–129Google Scholar
  5. 5.
    Grabowski GA, Gatt S, Horowitz M (1990) Acid-glucosidase. Enzymology and molecular biology of Gaucher disease. Crit Rev Biochem Molecul Biol 25:385Google Scholar
  6. 6.
    Jaffe HL (1972) Metabolic degenerative and inflammatory diseases of bones and joints. Lee & Febiger, Philadelphia, p 506Google Scholar
  7. 7.
    Horev G, Kornreich L, Hader H, Katz K (1991) Hemorrhage associated with bone crisis in Gaucher disease identified by magnetic resonance imaging. Skeletal Radiol 20:479CrossRefPubMedGoogle Scholar
  8. 8.
    Yossipovitch ZH, Hermann G, Makin M (1965) Aseptic osteomyelitis in Gauoher disease. Israel J Med Sci 1:531PubMedGoogle Scholar
  9. 9.
    Jaffe HL (1972) Metabolic degenerative and inflammatory diseases of bones and joints. Lee & Febiger, Philadelphia, p 1024Google Scholar
  10. 10.
    Singleton EB (1990) Film panel case of pediatric radiology. Pediatr Radiol 20:373Google Scholar
  11. 11.
    Hermann G, Wagner LD, Gendal ES, Ragland RL, Ulin RI (1989) Spinal cord compression in type 1 Gaucher's disease. Radiology 170:147PubMedGoogle Scholar
  12. 12.
    Beutler E, Grabowski GA. Glucosylceramide lipidosis —Gaucher disease. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic basis of inherited disease, 7th edn. McGraw-Hill, New York (in press)Google Scholar
  13. 13.
    Kaufman S, Rozenfeld V, Yona R, Varon M (1986) Gaucher's disease associated with chronic lymphocytic leukaemia. Clin Lab Haematol 8:321PubMedGoogle Scholar
  14. 14.
    Garfinkel D, Sidi Y, Ben-Bassat M, Salomon F, Hazaz B, Pinkhas J (1982) Coexistence of Gaucher's disease and multiple myeloma. Arch Intern Med 142:2229CrossRefPubMedGoogle Scholar
  15. 15.
    Bruckstein AH, Karanas A, Dire JJ (1980) Gaucher's disease associated with Hodgkin's disease. Am J Med 68:610CrossRefPubMedGoogle Scholar

Copyright information

© International Skeletal Society 1994

Authors and Affiliations

  • George Hermann
    • 1
  • Robert Shapiro
    • 1
  • I. Fikry Abdelwahab
    • 1
  • Michael J. Klein
    • 2
  • Gregory Pastores
    • 3
  • Gregory Grabowski
    • 4
  1. 1.Department of RadiologyMount Sinai Medical Center of the City University of New YorkNew York, NYUSA
  2. 2.Department of PathologyMount Sinai Medical Center of the City University of New YorkUSA
  3. 3.Department of Human GeneticsMount Sinai Medical Center of the City University of New YorkUSA
  4. 4.Cincinnati Children's Hospital, University of CincinnatiCollege of MedicineCincinnatiUSA

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