Progressive pseudorheumatoid dysplasia: a rare childhood disease.

Détails

ID Serval
serval:BIB_D0D0FB23BE11
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Progressive pseudorheumatoid dysplasia: a rare childhood disease.
Périodique
Rheumatology international
Auteur⸱e⸱s
Torreggiani S., Torcoletti M., Campos-Xavier B., Baldo F., Agostoni C., Superti-Furga A., Filocamo G.
ISSN
1437-160X (Electronic)
ISSN-L
0172-8172
Statut éditorial
Publié
Date de publication
03/2019
Peer-reviewed
Oui
Volume
39
Numéro
3
Pages
441-452
Langue
anglais
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Résumé
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.
Mots-clé
Alternative Splicing, CCN Intercellular Signaling Proteins/genetics, Child, Child, Preschool, Humans, Introns, Joint Diseases/congenital, Joint Diseases/diagnostic imaging, Joint Diseases/genetics, Joint Diseases/physiopathology, Mutation, RNA, Messenger/metabolism, Radiography, Sequence Analysis, DNA, Sequence Analysis, RNA, Skin/cytology, Juvenile idiopathic arthritis, Progressive pseudorheumatoid arthropathy of childhood, Progressive pseudorheumatoid dysplasia, Spondyloepiphyseal dysplasia tarda with progressive arthropathy
Pubmed
Web of science
Création de la notice
12/11/2018 17:06
Dernière modification de la notice
11/01/2020 6:16
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