Rheumatology International

, Volume 39, Issue 3, pp 441–452 | Cite as

Progressive pseudorheumatoid dysplasia: a rare childhood disease

  • Sofia TorreggianiEmail author
  • Marta Torcoletti
  • Belinda Campos-Xavier
  • Francesco Baldo
  • Carlo Agostoni
  • Andrea Superti-Furga
  • Giovanni Filocamo


Progressive pseudorheumatoid dysplasia (PPRD) is a genetic bone disorder characterised by the progressive degeneration of articular cartilage that leads to pain, stiffness and joint enlargement. As PPRD is a rare disease, available literature is mainly represented by single case reports and only a few larger case series. Our aim is to review the literature concerning clinical, laboratory and radiological features of PPRD. PPRD is due to a mutation in Wnt1-inducible signalling protein 3 (WISP3) gene, which encodes a signalling factor involved in cartilage homeostasis. The disease onset in childhood and skeletal changes progresses over time leading to significant disability. PPRD is a rare condition that should be suspected if a child develops symmetrical polyarticular involvement without systemic inflammation, knobbly interphalangeal joints of the hands, and gait abnormalities. A full skeletal survey, or at least a lateral radiograph of the spine, can direct towards a correct diagnosis that can be confirmed molecularly. More than 70 WISP3 mutations have so far been reported. Genetic testing should start with the study of genomic DNA extracted from blood leucocytes, but intronic mutations in WISP3 causing splicing aberrations can only be detected by analysing WISP3 mRNA, which can be extracted from cultured skin fibroblasts. A skin biopsy is, therefore, indicated in patients with typical PPRD findings and negative mutation screening of genomic DNA.


Progressive pseudorheumatoid dysplasia Progressive pseudorheumatoid arthropathy of childhood Spondyloepiphyseal dysplasia tarda with progressive arthropathy Juvenile idiopathic arthritis 


Author Contributions

ST and GF were involved in the conceptualization, planning and execution of this review. All authors contributed to data synthesis and interpretation, simultaneous draft review and the final version of the manuscript.


The authors received no specific funding for this work.

Compliance with ethical standards

Conflict of interest

The authors declare no conflict of interest.

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the authors.

Informed consent

Informed consent was obtained from the patient whose photograph and radiological image are displayed in the present article.


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© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoMilanItaly
  2. 2.Division of Genetic MedicineCentre Hospitalier Universitaire VaudoisLausanneSwitzerland

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