A rare case of progressive pseudorheumatoid dysplasia
نویسندگان
چکیده
Progressive pseudorheumatoid dysplasia is a rare, autosomal recessive, noninflammatory musculoskeletal disorder caused by mutations occurring in the WNT1- protein present 3 gene. Usual presentation arthralgia, joint stiffness, contractures with primary involvement cartilage. We 13-year-old female child presented history of short stature, bowing legs and curving spine inability to walk normally since past two years. The symptoms have been progressively worsening for one year. pseudo rheumatoid rare form spondyloepimetaphyseal clinically misdiagnosed as juvenile idiopathic arthritis. Any patient presenting should be evaluated appropriately start appropriate therapy time.
منابع مشابه
Progressive Pseudorheumatoid Dysplasia or JIA?
Progressive pseudorheumatoid dysplasia (PPD) or spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare arthropathy of childhood involving the axial skeleton as well as small peripheral joints. A 10-year-old boy was referred by a general practitioner with pain and deformity in the fingers of hands and limping gait. There was no joint synovitis although the finger joi...
متن کاملProgressive pseudorheumatoid dysplasia: a close mimicker of juvenile idiopathic arthritis.
To cite: Chakraborty PP, Biswas SN, Patra S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2016-214849 DESCRIPTION A girl aged 111⁄2 years was referred to the endocrinology clinic with a provisional diagnosis of short stature secondary to juvenile idiopathic arthritis ( JIA). Born of a consanguineous union, she had presented to her primary care physician...
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Progressive pseudorheumatoid dysplasia is an inherited skeletal dysplasia with radiographic changes notably in the spine, similar to spondyloepiphyseal dysplasia tarda. There is also articular cartilage involvement which gives it some clinical resemblance to rheumatoid arthritis. We report here on six subjects from one inbred family from Jordan. Based on previously published reports and this on...
متن کاملPseudorheumatoid dysplasia. A rare genetic disorder simulating juvenile idiopathic arthritis.
We present the case of a teenage patient with progressive pseudorheumatoid dysplasia, an autosomal recessive disorder that may be initially misdiagnosed as juvenile idiopathic arthritis.
متن کاملProgressive Pseudorheumatoid Dysplasia Misdiagnosed as Seronegative Juvenile Idiopathic Arthritis
BACKGROUND Progressive pseudorheumatoid dysplasia (PPD) is a rare spondylo-epi-metaphyseal dysplasia (SEMD). It can be confused with juvenile idiopathic arthritis (JIA), both clinically and radiologically. Early detection and diagnosis of PPD are important in helping to relieve the pain and disability associated with this disease and in avoiding unnecessary investigations and anti-rheumatic int...
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ژورنال
عنوان ژورنال: International Journal of Contemporary Pediatrics
سال: 2022
ISSN: ['2349-3283', '2349-3291']
DOI: https://doi.org/10.18203/2349-3291.ijcp20223426