title: Type I gaucher disease: extraosseous extension of skeletal disease.
abstract: OBJECTIVE
  To investigate the frequency and morphology of extraosseous extension in patients with Gaucher disease type I.
  
  
  METHODS
  MRI examinations of the lower extremities were analyzed in 70 patients with Gaucher disease type I. Additionally, the thoracic spine and the midface were investigated on MRI in two patients.
  
  
  RESULTS
  Four cases are presented in which patients with Gaucher disease type I and severe skeletal involvement developed destruction or protrusion of the cortex with extraosseous extension into soft tissues. In one patient, Gaucher cell deposits destroyed the cortex of the mandible and extended into the masseter muscle. In the second patient, multiple paravertebral masses with localized destruction of the cortex were apparent in the thoracic spine. In the third and fourth patient, cortical destruction with extraosseous tissue extending into soft tissues was seen in the lower limbs.
  
  
  CONCLUSIONS
  Extraosseous extension is a rare manifestation of Gaucher bone disease. While an increased risk of cancer, especially hematopoietic in origin, is known in patients with Gaucher disease, these extraosseous benign manifestations that may mimic malignant processes should be considered in the differential diagnosis of extraosseous extension into soft tissues. A narrow neck of tissue was apparent in all cases connecting bone and extraosseous extensions.
authors.affiliation: Department of Diagnostic Radiology, Heinrich Heine University Düsseldorf, Moorenstrasse 5, D-40225 Düsseldorf, Germany.
authors.forename: L W
authors.initials: LW
authors.lastname: Poll
authors.forename: J A
authors.initials: JA
authors.lastname: Koch
authors.forename: S
authors.initials: S
authors.lastname: vom Dahl
authors.forename: M
authors.initials: M
authors.lastname: Sarbia
authors.forename: C
authors.initials: C
authors.lastname: Niederau
authors.forename: D
authors.initials: D
authors.lastname: Häussinger
authors.forename: U
authors.initials: U
authors.lastname: Mödder
mesh_terms: D000328:Adult; D000368:Aged; D001847:Bone Diseases / Q000175:diagnosis*; D001853:Bone Marrow / Q000473:pathology; D001842:Bone and Bones / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology