Extraosseous extension of Gaucher cell deposits mimicking malignancy
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 wordsGaucher disease Soft tissue mass
Unable to display preview. Download preview PDF.
- 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.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.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.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.Jaffe HL (1972) Metabolic degenerative and inflammatory diseases of bones and joints. Lee & Febiger, Philadelphia, p 506Google Scholar
- 9.Jaffe HL (1972) Metabolic degenerative and inflammatory diseases of bones and joints. Lee & Febiger, Philadelphia, p 1024Google Scholar
- 10.Singleton EB (1990) Film panel case of pediatric radiology. Pediatr Radiol 20:373Google Scholar
- 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