Clinical Radiological and Molecular Profile of a Patient Affected With Multicentric Osteolysis Nodulosis and Arthropathy

Abstract

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.

Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy

“…Another related disorder, Winchester syndrome (MIM# 277,950) is caused by variants of MMP14 but some of the patients have variants in MMP2 [5,6]. MONA is a rare genetic disease with only 52 patients and 23 variants reported in the literature for the osteolysis syndrome [1][2][3][4][7][8][9][10][11][12][13][14][15][16][17][18][19]. No epidemiological statistics of MONA have been reported.…”