Diffuse, fracturing systemic skeletal histiocytosis of unknown type: a novel metabolic bone disease

  • R. Saini
  • L. M. DiFrancesco
  • K. Johnston
  • A. Khan
  • G. A. KlineEmail author
Case Report


We describe a novel disease of diffuse skeletal histiocytosis associated with multiple fragility fractures and high osteoclast activity. Clinical, radiographic, biochemical, genetic, and histopathological investigations were performed to characterize the diagnosis of an Asian man who presented with hip fracture and diffuse skeletal lytic lesions. After excluding malignancy and other common metabolic bone diseases, open bone biopsy yielded several pathological samples all showing extensive skeletal histiocytosis likely to explain the diffuse axial and appendicular lytic lesions. Rare disorders such as Langerhans histiocytosis, Erdheim-Chester disease, and diffuse cystic skeletal angiomatosis were excluded through careful pathological examination and lack of CD1a and S-100 staining. Whole exome sequencing did not yield diagnostic findings to explain this likely acquired disease. High markers of osteoclast activity suggested excessive focal bone resorption but normalized after zoledronic acid treatment. A novel disease of skeletal histiocytosis with high bone turnover is differentiated from other histiocytic and lytic skeletal diseases.


Histiocytosis Lytic lesions Metabolic bone disease Osteoporosis 


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Conflict of interest



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Copyright information

© International Osteoporosis Foundation and National Osteoporosis Foundation 2019

Authors and Affiliations

  1. 1.Orthopedic SurgeryNorthern Ontario School of MedicineThunder BayCanada
  2. 2.Department of Pathology and Laboratory Medicine, Cumming School of MedicineUniversity of CalgaryCalgaryCanada
  3. 3.Division of Hip and Knee Joint Reconstruction, Department of Surgery, Orthopaedic Section, Cumming School of MedicineUniversity of CalgaryCalgaryCanada
  4. 4.Departments of Medical Genetics and Pediatrics, Alberta Children’s Hospital Research Institute, Cumming School of MedicineUniversity of CalgaryCalgaryCanada
  5. 5.Dr. David Hanley Osteoporosis Centre, Department Medicine/Endocrinology, Cumming School of MedicineUniversity of CalgaryCalgaryCanada

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