A novel entity of massive multifocal osteolyses in the elderly
Patrick Orth,
Phillip Rolf Stahl,
Wolfgang Tränkenschuh,
Daniel Baumhoer,
Tim Kehl,
Hans-Peter Lehnhof,
Günther Schneider,
Eckart Meese,
Henning Madry,
Ulrike Fischer
Affiliations
Patrick Orth
Department of Orthopaedic Surgery, Saarland University Medical Center, D-66421 Homburg, Germany; Center of Experimental Orthopaedics, Saarland University, D-66421 Homburg, Germany; Corresponding author at: Department of Orthopaedic Surgery, Saarland University Medical Center, Kirrberger Strasse, Building 37-38, D-66421 Homburg, Germany.
Phillip Rolf Stahl
Department of Pathology, MSB Medical School Berlin, D-14197 Berlin, Germany
Wolfgang Tränkenschuh
Department of Pathology, Saarland University Medical Center, D-66421 Homburg, Germany
Daniel Baumhoer
Bone Tumor Reference Center, Institute of Pathology, University Hospital Basel, CH-4031 Basel, Switzerland
Tim Kehl
Center for Bioinformatics, Saarland Informatics Campus, D-66123 Saarbrücken, Germany
Hans-Peter Lehnhof
Center for Bioinformatics, Saarland Informatics Campus, D-66123 Saarbrücken, Germany
Günther Schneider
Department of Radiology, Saarland University Medical Center, D-66421 Homburg, Germany
Eckart Meese
Institute of Human Genetics, Saarland University, D-66421 Homburg, Germany
Henning Madry
Center of Experimental Orthopaedics, Saarland University, D-66421 Homburg, Germany
Ulrike Fischer
Institute of Human Genetics, Saarland University, D-66421 Homburg, Germany
Osteolyses are common findings in elderly patients and most frequently represent malignant or locally aggressive bone tumors, infection, inflammatory and endocrine disorders, histiocytoses, and rare diseases such as Gorham-Stout syndrome. We here report on a novel entity of massive multifocal osteolyses in both shoulders, the right hip and left knee joint and the dens of an 83-year-old patient not relatable to any previously known etiopathology of bone disorders. The soft tissue mass is of myxoid stroma with an unspecific granulomatous inflammatory process, aggressively destroying extensive cortical and cancellous bone segments and encroaching on articulating bones in diarthrodial large joints. Radiological, nuclear medical, serological, histological, and immunohistochemical analyses were incapable of further classifying the disease pattern within the existing scheme of pathology. Quantitative polymerase chain reaction and next generation sequencing revealed that mutations are not suggestive of any known hereditary or acquired bone disease. Possible treatment options include radionuclide therapy for pain palliation and percutaneous radiation to arrest bone resorption while surgical treatment is inevitable for pathological fractures. This case study shall increase the awareness of the musculoskeletal community and motivate to collect further information on this rare but mutilating disorder.
