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

Chen, Wenji; Mo, Shiyan; Luo, Gui; Wang, Yanyan; Deng, Xiaohu; Zhu, Ji‐Min; Zhao, Wei

doi:10.1186/s12969-018-0272-7

Cited by 6 publications

(2 citation statements)

References 12 publications

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“…[6][7] This mutated gene found in our case has been previously witnessed in other clinical reports of PPRD as well. [8][9][10] Treatment to manage overall condition is NSAIDs which reduce the severity of pain and preserve joint mobility, as no definite cure is available. Genetic counselling was done of the family and they were informed about the risk of recurrence which is 25% in each pregnancy event.…”

Section: Discussionmentioning

confidence: 99%

A Rare Skeletal Dysplasia-Close Mimicker of Juvenile Idiopathic Arthritis-Progressive Pseudorheumatoid Dysplasia

Riaz

Khoso

Rani

et al. 2022

J Ayub Med Coll Abbottabad

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Progressive pseudorheumatoid dysplasia or spondyloepiphyseal dysplasia tarda is caused by a mutation in Wnt1 inducible signalling pathway protein 3 (WISP3) and passes in an autosomal recessive manner. Prevalence underestimated as one per million and most of the cases remain undiagnosed or treated as Juvenile Idiopathic Arthritis (JIA). Differentiation between JIA and PPRD is really challenging however, this case is genetically confirmed from our country. 7-year-old, short stature boy, with multiple joint swellings of hands and feet, initially suspected to have JIA and had been worked up and took treatment for that for the past 2 years. He had progressive stiffness of small joints. Baseline biochemistry, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), rheumatoid factor and ANA, were within normal limits. He was moderately growth hormone deficient. Thyroid function tests and insulin-like growth factor 1 (IGF-1) were within reference ranges. Skeletal survey showed typical findings of pseudorheumatoid skeletal dysplasia. Physical therapy and genetic counselling were done.

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Section: Discussionmentioning

confidence: 99%

A Rare Skeletal Dysplasia-Close Mimicker of Juvenile Idiopathic Arthritis-Progressive Pseudorheumatoid Dysplasia

Riaz

Khoso

Rani

et al. 2022

J Ayub Med Coll Abbottabad

View full text Add to dashboard Cite

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“…This autosomal recessive inherited skeletal dysplasia is characterized by progressive noninflammatory arthropathy affecting primarily the articular cartilage 2 . The prevalence of PPRD has been estimated at one per million in the United Kingdom 1 , but it may be underdiagnosed due to the overlap of clinical and imaging features with other pediatric musculoskeletal disorders, such as juvenile idiopathic arthritis (JIA), Scheuermann's disease, spondyloepiphyseal dysplasia, Stickler syndrome, and mucopolysaccharidosis, especially for JIA [3][4][5][6] . The onset of symptoms is usually in childhood between 3 to 6 years of age, and symptoms progressively worsen with time 2 .…”

Section: Introductionmentioning

confidence: 99%

A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment

et al. 2021

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Background: Most patients with progressive pseudorheumatoid dysplasia (PPRD) are initially misdiagnosed because of disease rarity and lack of awareness by most clinicians. The purpose of this present study was to provide further early diagnostic options and potential treatment to patients with PPRD. Methods: This was a retrospective study. Clinical manifestations, laboratory test results, radiographic features, Sanger Sequencing to determine CCN6 gene variants, treatment and follow-up records were collected in the patients with PPRD. Time to diagnosis, phenotype and genotype correlation were analyzed. Results: Nine PPRD children were included. There were 3 pairs of siblings and one patient had parental consanguinity. Five patients were misdiagnosed as juvenile idiopathic arthritis (JIA). The onset of disease in 8 patients was between 3 to 6 years of age. The interval from onset of symptoms to obtaining the diagnosis for 8 of the patients varied from 3.6 years to 20 years. The onset of symptoms included enlarged and stiff interphalangeal joints of the fingers, gait disturbance or joint pain. Laboratory tests revealed normal range of inflammatory parameters. Serum levels of 25-hydroxyvitamin D3 in six patients were below the normal range. Radiographic findings included different degree of abnormal vertebral bodies, epiphyseal enlargement of the interphalangeal joints with juxta-articular osteopenia, or cyst-like structures femoral head. All the patients harbored CCN6 variants, and a total of 7 variants were identified. After the treatment of calcitriol in 5 patients with low level of 25-hydroxyvitamin D3 for 1.25 years to 1.75 years, two of them kept stable, while 3 of them improved gradually. Conclusions: Combining the patient's family history, clinical features presenting with abnormal gait or enlarged and stiff interphalangeal joints of the fingers, normal inflammatory markers, and the characteristic radiographic findings, we can obtain the clinical diagnosis of PPRD for the patients at a very early stage of the disease. Anterior blunt of the vertebral bodies could be an early radiological sign in the patient even without obvious clinical symptoms and characteristics yet. The patients with PPRD having c.624dupA variant in CCN6 may have delayed onset. Underlying vitamin D deficiency should be sought and corrected in patients with PPRD.

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Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype–phenotype analysis of 105 patients

et al. 2023

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Background Progressive pseudorheumatoid dysplasia (PPRD) is a rare genetic disease with autosomal recessive inheritance. There was a lack of genotype–phenotype correlation data from the Chinese population. This study aimed to identify the genotype and phenotype characteristics of Chinese PPRD patients and to conduct a genotype–phenotype analysis of Chinese PPRD patients. Methods Genetic analysis was performed for suspected PPRD patients from Peking Union Medical College Hospital. Medical records were collected from the electronic medical record system and patient-held portable health records. Published Chinese PPRD cases were gathered from both international and Chinese local databases. We collected demographic information, genetic variants, clinical manifestations, and imaging characteristics for further analysis. Results We included 105 Chinese PPRD patients in the current study. Thirty-three variants, including nine novels and five hotspot variants, were identified, with 26/33 (79%) variants exclusively seen in the Chinese population. Chinese PPRD patients share a phenotype similar to that in international reports. Joint involvement may progress with age (R2 = 0.2541). Long bone shortening and severe deformities occur in three patients with biallelic null variants, of which at least one variant is located in exon 2. Among hotspot variants, c.624dupA (p.C209Mfs*21) were associated with later onset and more involved joints. Elbow joints were more likely to be affected in patients carrying c.624dupA (p.C209Mfs*21) and c.866dupA (p.S209Efs*13). Shoulder joints are more likely to be involved in patients with biallelic null variants (P = 0.027). Conclusions Chinese PPRD patients share a unique mutation spectrum. Among the five hotspot variants, c.624dupA is associated with later onset of disease, more extensive joint involvement, and a tendency to affect elbow joints. Biallelic null variants with at least one variant in exon 2 could be a likely cause of long bone shortening and severe deformities.

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

Cited by 6 publications

References 12 publications

A Rare Skeletal Dysplasia-Close Mimicker of Juvenile Idiopathic Arthritis-Progressive Pseudorheumatoid Dysplasia

A Rare Skeletal Dysplasia-Close Mimicker of Juvenile Idiopathic Arthritis-Progressive Pseudorheumatoid Dysplasia

A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment

Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype–phenotype analysis of 105 patients

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