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Clinical Radiological and Molecular Profile of a Patient Affected With Multicentric Osteolysis Nodulosis and Arthropathy
Multicentric Osteolysis Nodulosis and Arthropathy (MONA) is an ultra-rare multisystem autosomal recessive disorder characterized by progressive osteolysis, subcutaneous nodules and developing arthropathy. The characteristic radiological signs combined with symptoms resembling juvenile idiopathic art...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396420/ https://www.ncbi.nlm.nih.gov/pubmed/34466312 http://dx.doi.org/10.7759/cureus.16615 |
Sumario: | Multicentric Osteolysis Nodulosis and Arthropathy (MONA) is an ultra-rare multisystem autosomal recessive disorder characterized by progressive osteolysis, subcutaneous nodules and developing arthropathy. The characteristic radiological signs combined with symptoms resembling juvenile idiopathic arthritis (JIA) set the diagnosis, which is established either by measuring matrix metalloproteinase-2 (MMP-2) enzyme activity through electrophoresis (zymography) or genomic testing. We report the clinical and radiographic findings of a 14-year-old girl with molecularly proven MONA, who presented with painless osteolytic changes of the feet and upper extremities and developed hip arthritis. To this day, no specific therapy has been identified with proven long term relief and control of the disease progression. |
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