title: Large soft-tissue masses in an adult patient with Gaucher disease.
abstract: Extra-osseous masses are rarely seen in Gaucher disease. Here we present a case of a 30-year-old patient with Gaucher disease type 3, receiving β-glucocerebrosidase enzyme replacement therapy, who presented with slowly enlarging masses along her back. There was no osseous extension seen on imaging. Biopsy of the mass ultimately showed extensive soft tissue infiltration by Gaucher cells. No other cases of soft-tissue masses of this extent have been described in the literature, and therefore management remains unclear.
authors: Genetics Division, Department of Pediatrics, LAC + USC Medical Center, University of Southern California, Los Angeles, CA, USA.
authors: Neha
authors: N
authors: Mahajan
authors: Department of Pathology, LAC + USC Medical Center, University of Southern California, Los Angeles, CA, USA.
authors: Russell
authors: R
authors: Brynes
authors: Genetics Division, Department of Pediatrics, LAC + USC Medical Center, University of Southern California, Los Angeles, CA, USA. syano@usc.edu.
authors: Shoji
authors: 0000-0001-5565-9572
authors: S
authors: Yano
mesh_terms: D000328:Adult; D001706:Biopsy; D056947:Enzyme Replacement Therapy / Q000379:methods; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy / Q000473:pathology*; D005962:Glucosylceramidase / Q000627:therapeutic use; D006801:Humans
chemical_list: D005962:Glucosylceramidase