A novel gene mutation for multicentric osteolysis nodulosis and arthropathy: Case report and review of literature

Multicentric Osteolysis Nodulosis Arthropathy Syndrome Simulating Juvenile Idiopathic Arthritis in an Adult Female: A Case Report and a Literature Review

“…2000 [5] and it seems that the intelligence level generally remains normal in the MMP2 gene mutation. The link between MMP2 gene mutation and cardiac pathology was first described by Tuysuz et al [16] in a Turkish family and literature reported many cases of congenital cardiac anomalies linked to MMP2 gene mutation from Middle Eastern regions including current cases [16][17][18]. Bone resorption, osteopenia, osteolysis, and hand deformities were the characteristic findings in all cases and very few cases showed fracture incidence [8,17].…”

“…The link between MMP2 gene mutation and cardiac pathology was first described by Tuysuz et al [16] in a Turkish family and literature reported many cases of congenital cardiac anomalies linked to MMP2 gene mutation from Middle Eastern regions including current cases [16][17][18]. Bone resorption, osteopenia, osteolysis, and hand deformities were the characteristic findings in all cases and very few cases showed fracture incidence [8,17]. Clinical and radiological findings are helpful in providing better insight and a prospective understanding of the physiologic role of the MMP 2 gene in human physiology, and molecular findings may clarify which substrates and MMP2 activities are critical in bone, joint, and cardiac development.…”

“…One of the reported cases responded well to oral prednisolone and methotrexate with the improvement of joint pain, contracture, and nodulosis with normal growth while osteolysis did not improve [5], and in another case, corticosteroid resulted in improvement of painful swelling and nodules [16]. The treatment of osteopenia and osteoporosis using bisphosphonates increases bone mineral density and decreases pain but has no impact on osteolysis [5,17,19,20]. Overall, no improvement was observed in osteolysis, skeletal deformities, or delay in disease progression after using immunosuppressive treatment including methotrexate, etanercept, intravenous methylprednisolone, and oral corticosteroids [8,16,18,19].…”