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[Multilocular Paget's disease in IBMPFD syndrome. A case report with 14-year follow-up]
D Zajonz1, C Langsieb, L Chavdarova
1Orthopädische Klinik und Poliklinik, Universitätsklinikum Leipzig, Liebigstr. 20, 04103, Leipzig, Deutschland.
Abstract:
Paget's osteodystrophia deformans is a monoostotic or polyostotic disease of the skeletal system with increased bone remodelling, structural modifications and skeletal deformation, typically arranged like a chessboard. The unusual case of a patient is described who had suffered from generalized Paget's disease of the bone for 14 years and also developed progressive myopathy and a behavioural variant frontotemporal dementia. Further cytogenetic diagnostics revealed a point mutation in the valosin-containing protein (VCP, p97) gene on chromosome 9p13-p12 consistent with the finding of inclusion body myopathy with early onset Paget's disease and frontotemporal dementia (IBMPFD syndrome). A causal therapy of this disease is not known. Conservative treatment with bisphosphonate therapy, intensive physiotherapeutic exercise and psychotherapeutic treatment was performed to retard the progression of the disease.
Insights
This study details a rare case of Paget's disease progressing to myopathy and frontotemporal dementia. Genetic analysis identified a VCP gene mutation, confirming Inclusion Body Myopathy with Early-Onset Paget
Area of Science:
- Genetics
- Neurology
- Bone Biology
Background:
- Paget's osteodystrophia deformans is a skeletal disorder characterized by increased bone remodeling and deformities.
- It typically affects one or multiple bones, presenting with a distinct chessboard pattern in advanced stages.
Observation:
- An unusual case of a patient with generalized Paget's disease for 14 years is presented.
- The patient also developed progressive myopathy and behavioral variant frontotemporal dementia.
Findings:
- Cytogenetic diagnostics revealed a point mutation in the valosin-containing protein (VCP, p97) gene.
- This genetic finding is consistent with Inclusion Body Myopathy with Early-Onset Paget's Disease and Frontotemporal Dementia (IBMPFD) syndrome.
Implications:
- This case highlights the complex neurological and muscular manifestations associated with VCP gene mutations.
- Currently, no causal therapy exists; management focuses on conservative treatments to slow disease progression.
- Further research into VCP-related disorders is warranted for potential therapeutic targets.