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

被引:3
|
作者
Imam, Syed K. [1 ]
Alnaqeb, Dhekra [1 ]
Bedaiwi, Mohammad [2 ]
Khouj, Ebtissal M. [3 ]
机构
[1] Sultan Bin Abdulaziz Humanitarian City, Internal Med Dept, Riyadh, Saudi Arabia
[2] King Saud Univ, Coll Med, Internal Med Dept, Riyadh, Saudi Arabia
[3] King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Translat Genom Dept, Riyadh, Saudi Arabia
关键词
juvenile idiopathic arthritis; autosomal recessive; skeletal dysplasia; matrix metalloproteinases; torg syndrome; winchester syndrome; online mendelian inheritance in man (omim); multicentric osteolysis nodulosis arthropathy; TORG-SYNDROME; MUTATION; MMP2; GENE;
D O I
10.7759/cureus.45152
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Multicentric osteolysis, nodulosis, and arthropathy (MONA) syndrome is one of the rare genetic skeletal dysplasias, inherited as an autosomal recessive disorder, which predominantly involves carpal and tarsal bones with characteristic osteolytic lesions and can be misdiagnosed as juvenile idiopathic arthritis or rheumatoid arthritis. MONA syndrome includes diseases involving two genes: the matrix metalloproteinase 2 (MMP2) gene and matrix metalloproteinase 14 (MMP14). Both genes are assumed to cause phenotype variants of the same disease. Older patients may manifest some arthritic features, especially in the wrist, and minute pathological fractures can occur as well. These patients may be misdiagnosed as inflammatory arthritis and physicians might prescribe corticosteroid and disease-modifying immunosuppressive agents. Therefore, physicians should carefully evaluate genetic skeletal dysplasia to make a correct diagnosis and avoid unnecessary pharmacological intervention.We report a case of MONA syndrome in an adult female who came to our facility for an intensive rehabilitation program.
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页数:7
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