Progressive Pseudorheumatoid Dysplasia Misdiagnosed as Seronegative Juvenile Idiopathic Arthritis

Pseudorheumatoid 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.

An eleven-year-old female Turkish patient with progressive pseudorheumatoid dysplasia mimicking juvenile idiopathic arthritis.

Pseudoseptic pseudogout in progressive pseudorheumatoid arthritis of childhood.

Progressive pseudorheumatoid arthritis of childhood is an uncommon arthropathy of unknown aetiology, which is related to spondyloepiphyseal dysplasia tarda. Previous reports have noted the absence of joint inflammation in this disease. An adult is described here with this arthropathy, who developed episodic acute inflammatory arthritis that mimicked septic arthritis, but proved to be pseudogout...

Progressive 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...

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia

Rare diseases are often misdiagnosed or receive a delayed diagnosis; thus, unfortunately, affected individuals may not receive optimal medical management. Here, we report a case of two siblings with a severe phenotype of progressive pseudorheumatoid dysplasia (PPD). Their onset of symptoms began at the age of 3 yr. Both were neglected in the past, and the patients presented with a very severe p...