Noninflammatory disorders mimic juvenile idiopathic arthritis

Abstract

Juvenile idiopathic arthritis (JIA) is the most common chronic childhood arthritis; unfortunately, no diagnostic tool is available. Genetic disorders with musculoskeletal involvement that mimic chronic polyarthritis should be considered in the differential diagnostics of JIA. Normal inflammatory markers and characteristic radiological features are able to distinguish these disorders from JIA. Timely diagnosis of these disorders is crucial to offer the family proper genetic counseling and avoid inappropriate therapy. This review highlights selected noninflammatory disorders that often present with articular manifestations and that are often mislabeled as JIA. The focus is on the clinical, biochemical, and imaging features of these disorders.

Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis

“…Genetic musculoskeletal disorders with polyarthropathy should be considered in the differential diagnosis of poly-JIA [ 2 ]. PPRD, for example, is characterized by progressive arthropathy involving the small peripheral joints in early childhood with progressive stiffness and flexion contractions of the interphalangeal joints associated with metaphyseal bony overgrowth of the metacarpals and phalanges.…”

“…Eventually, other joints become involved and patients develop disproportionate short stature, abnormal posture, kyphoscoliosis, hyperlordosis, and abnormal gait. The levels of inflammatory markers are within the normal range in these cases, and radiological findings show dysplastic rather than arthritic changes; the characteristic findings include epimetaphyseal expansion and platyspondyly [ 2 , 3 ]. Unfortunately, there is no known treatment for this condition; patients require supportive care for osteoarthritis-like pain due to joint degeneration and bony dysplasia.…”

“…Unfortunately, there is no known treatment for this condition; patients require supportive care for osteoarthritis-like pain due to joint degeneration and bony dysplasia. Although our initial suspicion was PPRD, we decided to proceed with WES rather than WISP3 single-gene analysis since a number of rare familial noninflammatory arthropathies should be considered in the differential diagnosis of PPRD [ 2 , 7 , 8 ]. Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CAPC), for example, is a rare autosomal inherited disorder caused by mutations in the proteoglycan 4 gene ( PRG4 ) gene.…”

“…Juvenile idiopathic arthritis (JIA) represents a heterogeneous group of relatively common chronic arthritides in children [ 1 ]. A spectrum of rare noninflammatory disorders may present with arthropathy that arises from bony dysplasia, a thickened synovium, and noninflammatory effusion, leading to clinical manifestations that often mimic JIA [ 2 , 3 ]. Progressive pseudorheumatoid dysplasia (PPRD) is an autosomal recessive noninflammatory arthropathy (OMIM #208230) characterized by progressive joint stiffness, joint swelling with contractures, and a waddling gait.…”

Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia

“…The diagnosis of JIA is challenging due to the heterogeneity and nonspecificity of clinical symptoms and the episodic nature of symptoms. A number of musculoskeletal diseases such as idiopathic multicentric osteolysis, mucopolysaccharidoses, camptodactyly‐arthropathy‐coxa vara‐pericarditis syndrome, and progressive pseudorheumatoid dysplasia can mimic JIA but are noninflammatory in nature 2,3 . Misdiagnosis can lead to inappropriate and unnecessary treatments.…”