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Case Reports
. 2018 Sep 10;16(1):55.
doi: 10.1186/s12969-018-0272-7.

Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3

Wenji Chen  1 , Shiyan Mo  1 , Gui Luo  1 , Yanyan Wang  1 , Xiaohu Deng  1 , Jian Zhu  1 , Wei Zhao  2
Affiliations
Case Reports

Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3

Wenji Chen et al. Pediatr Rheumatol Online J. .

Abstract

Background: As one kind of osteochondrodysplasia, progressive pseudorheumatoid dysplasia (PPD) is also known as spondyloepiphyseal dysplasia tarda with progressive arthropathy or arthropathy progressive pseudorheumatoid of childhood. PPD is a very rare disease, especially in China, and has an estimated prevalence of 1/1000000 due to lacking definite prevalence survey. It is an autosomal recessive disorder caused by gene mutation of Wntl inducible signaling pathway protein 3 (WISP3). Its basic pathological change is persistent degeneration and loss of articular cartilage in multiple joints. Its clinical appearances include bone enlargement, platyspondyly, irregular endplate, secondary osteoarthritis, extensive osteoporosis, joint rigidity and function loss. Clinical diagnosis of PPD is made based on clinical appearance and imaging examinations, whereas its definite diagnosis depends on gene sequencing. PPD has no severe effect on life span, but causes high disability rate and very poor prognosis. There are only case reports with limited information in China.

Case presentation: One female patient was diagnosed as PPD and secondary osteoarthritis. She had typical clinical appearance and imaging examinations, and received individualized therapeutic regimens. She had a gene mutation (c.72delT, p.T24TfsX4) of WISP3. This gene mutation has not been reported by previous literatures and included in Single Nucleotide Polymorphism Database.

Conclusions: As the first time, this paper reported a patient with PPD caused by new-found gene mutation (c.72delT, p.T24TfsX4) of WISP3.

Keywords: Progressive pseudorheumatoid dysplasia; Wntl inducible signaling pathway protein 3.

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Conflict of interest statement

Ethics approval and consent to participate

The study protocol was approved by Ethics Committee of Hainan Branch of Chinese People’s Liberation Army General Hospital (Sanya, China). This participant provided written informed consent to be included in the study.

Consent for publication

Written consent for publication was obtained from this patient.

Competing interests

The authors declare that they have no conflict of interest.

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Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Pictures/ultrasound. Bone enlargement in multiple joints of hands (a); bone enlargement in elbow joint (b); bone enlargement in knee joints (c); ultrasound of knee joint: synovial hyperplasia and effusion in suprapatellar bursa, rough articular surface and inhomogeneous echo enhancement of hyaline cartilage (d)
Fig. 2
Fig. 2
Plain films. Plain film of hands: osteoporosis (a); plain film of spine: thoracic and lumbar platyspondyly with irregular margin (b); plain film of pelvis: space narrowing of hip joint and normal sacroiliac joint (c); plain film of knee joints: joint space narrowing and rough articular surface (d)
Fig. 3
Fig. 3
Gene sequencing. Gene sequencing results of Wntl inducible signaling pathway protein 3 in this patient (a) and her father (b) and mother (c)
See this image and copyright information in PMC

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