A artropatia pseudorreumatóide progressiva (displasia) da infância (PPAC; PPD) apresenta-se como displasia espondiloepifisária (SED) tardia com artropatia progressiva e é descrita como um subtipo autossômico recessivo específico de SED.
Introdução
O que você precisa saber de cara
A artropatia pseudorreumatóide progressiva (displasia) da infância (PPAC; PPD) apresenta-se como displasia espondiloepifisária (SED) tardia com artropatia progressiva e é descrita como um subtipo autossômico recessivo específico de SED.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 23 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 59 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Plays a role in mitochondrial electron transport and mitochondrial respiration (PubMed:27252383). Through its regulation of the mitochondrial function may play a role in normal postnatal skeletal growth and cartilage homeostasis (PubMed:10471507, PubMed:27252383)
SecretedMitochondrion
Progressive pseudorheumatoid dysplasia
An autosomal recessive disorder characterized by stiffness and swelling of joints, motor weakness and joint contractures. Signs and symptoms of the disease develop typically between three and eight years of age. This progressive disease is a primary disorder of articular cartilage with continued cartilage loss and destructive bone changes with aging.
Variantes genéticas (ClinVar)
96 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 61 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Displasia pseudorreumatoide progressiva
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
1 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Identification and functional analysis of CCN6 variants in progressive pseudorheumatoid dysplasia: Exploring the potential role of ferroptosis and apoptosis in chondrocytes.
When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.
Chronic arthritis in children is widely associated with juvenile idiopathic arthritis (JIA); however, several rare monogenic disorders may mimic its clinical presentation. Misdiagnosis can result in unnecessary immunosuppressive treatment and delay appropriate care. This study aimed to share our experience with monogenic disorders presenting as chronic arthritis and highlight their distinguishing clinical and imaging features. This retrospective cohort study included patients initially suspected of having JIA who were later diagnosed with a monogenic disorder. Clinical, laboratory, imaging, and genetic data were also collected and evaluated. Among the 25 patients, the most frequent diagnoses were progressive pseudorheumatoid dysplasia (PPRD; n = 12) and camptodactyly arthropathy-coxa vara-pericarditis (CACP) syndrome (n = 8). Other diagnoses included mucolipidosis type III gamma, primary hypertrophic osteoarthropathy (PHO), and multicentric carpotarsal osteolysis (MCTO). While all PPRD and CACP patients had biallelic pathogenic variants in CCN6 and PRG4, respectively, PHO and MCTO were associated with monoallelic mutations. Common misdiagnoses included polyarticular JIA, leading to the inappropriate use of methotrexate or biologic agents. Several monogenic disorders can mimic JIA in pediatric patients, leading to diagnostic challenges. Clinical features, such as camptodactyly, skeletal deformities, digital clubbing, median nerve neuropathy, and poor response to treatment should prompt further evaluation, including genetic testing. Increased awareness and early recognition of these conditions are crucial to avoid unnecessary immunosuppression and improve patient outcomes. • Several rare monogenic disorders can clinically mimic JIA and misdiagnosis of these monogenic mimickers may lead to inappropriate immunosuppressive treatment and delayed appropriate care. • This study presents a real-world single-center data that systematically characterizes five distinct monogenic disorders mimicking JIA. • Findings emphasize the importance of early suspicion, especially in cases with symmetrical interphalangeal involvement (PPRD), camptodactyly with hip deformity (CACP), or osteolysis with renal/facial anomalies (MCTO), to avoid unnecessary immunosuppression.
Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia.
Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive cartilage disorder caused by biallelic variants in CCN6, which encodes the matricellular protein WISP3. Although WISP3 is thought to contribute to extracellular matrix (ECM) homeostasis, its precise molecular role in PPD remains unclear. To elucidate how disease-associated CCN6 variants affect chondrocyte function, we overexpressed four variants-p.Cys52*, p.Tyr109*, p.Gly83Glu, and p.Cys114Trp-all located within the IGFBP domain, and evaluated their impact on parameters including redox balance, ER stress, ECM remodeling, gene expression, and protein-protein interactions. The p.Cys52* variant resulted in rapid degradation of WISP3, indicating a complete loss-of-function. The p.Tyr109* variant disrupted ECM regulation, markedly reducing protein interaction capacity, which was correlated with elevated mitochondrial ROS (mtROS) levels and triggered a strong response that led to programmed cell death. Although both missense variants yielded full-length proteins, their effects diverged significantly: p.Gly83Glu induced minor cellular alterations, whereas p.Cys114Trp caused severe protein destabilization, increased ROS accumulation, and high levels of ER stress. Proteomic analysis revealed that p.Cys114Trp acquired novel interaction partners, suggesting a potential gain-of-function mechanism. Collectively, these findings demonstrate that the functional consequences of CCN6 variants depend not only on variant type or domain location but also on their positional and structural context. The distinct cellular responses elicited by each variant underscore the importance of functional validation in modeling PPD pathogenesis and offer valuable biological and therapeutic perspectives.
[Clinical phenotype and genetic analysis of a patient with Progressive pseudorheumatoid dysplasia due to compound heterozygous variants of CCN6 gene and a literature review].
To explore the clinical phenotype and genetic characteristics of a patient with Progressive pseudorheumatoid dysplasia (PPRD) due to compound heterozygous variants of CCN6 gene. A patient who was admitted to Qilu Hospital of Shandong University due to "bilateral finger joint deformity, bilateral hip and knee joint movement limitation for 19 years" was selected as the study subject. Clinical data of the patient were retrospectively collected. Peripheral blood samples were collected from the patient and her parents and subjected to whole exome sequencing (WES). Long-read sequencing (LRS) and Sanger sequencing were used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was classified. This study was approved by the Medical Ethics Committee of Qilu Hospital of Shandong University (Ethics No.: KYLL-202502 061). The patient, a 23-year-old female, presented with progressive polyarticular deformity, limited movement and abnormal growth and development since childhood. She was initially misdiagnosed as Ankylosing spondylitis and had poor response to sulphasalazine and etoricoxib treatment. WES revealed that she has harbored two heterozygous variants of the CCN6 gene (NM_198239.2), namely c.348C>A and c.676G>C. LRS confirmed that the two variants are located on two homologous chromosomes and constitute compound heterozygous variants. Based on the ACMG guidelines, both variants were rated as pathogenic (PVS1+PM2_Supporting+PM3; PM1+PM2_Supporting+PM3_Supporting+PM5+PP3_Strong). The c.676G>C variant has not been recorded by the HGMD and ClinVar databases. The c.348C>A and c.676G>C compound heterozygous variants of the CCN6 gene probably underlay the pathogenesis of PPRD in this patient. Above finding has enriched the mutational spectrum of PPRD and provided a basis for the clinical diagnosis and genetic counseling.
Progressive Pseudorheumatoid Dysplasia Misdiagnosed as Juvenile Idiopathic Arthritis: Advanced Joint Destruction.
Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal recessive arthropathy often misdiagnosed as juvenile idiopathic arthritis (JIA). We present the case of a 52-year-old woman with polyarthralgia since age 7, initially diagnosed with seronegative polyarticular JIA and treated with methotrexate at doses ranging from 10 to 15 mg weekly for over two decades, despite the absence of clinical improvement. The rationale for prolonged use was the persistence of joint symptoms under the initial diagnosis of JIA, leading clinicians to continue disease-modifying therapy. Clinical examination revealed joint deformities, limited range of motion, short stature, and limb length discrepancy. Radiographs showed characteristic PPRD features, including flattening of the metacarpophalangeal joints, brachymetatarsia, vertebral fractures, and lumbar osteopenia. Pelvic imaging demonstrated bilateral hip prostheses with loosening of the right prosthesis, superior migration of the femoral component, and screw fracture. Laboratory tests revealed normal inflammatory markers and negative rheumatoid factor and anti-cyclic citrullinated peptide (anti-CCP) antibodies. This case highlights the diagnostic challenges of PPRD and the potential for irreversible joint destruction when diagnosis is delayed. Clinicians should suspect PPRD in early onset polyarthritis with non-inflammatory joint involvement and negative immunologic tests to avoid unnecessary immunosuppressive therapy and initiate timely supportive management.
Publicações recentes
Progressive Pseudorheumatoid Dysplasia.
When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.
🥇 Meta-análiseIdentification and functional analysis of CCN6 variants in progressive pseudorheumatoid dysplasia: Exploring the potential role of ferroptosis and apoptosis in chondrocytes.
[Clinical phenotype and genetic analysis of a patient with Progressive pseudorheumatoid dysplasia due to compound heterozygous variants of CCN6 gene and a literature review].
Progressive Pseudorheumatoid Dysplasia Misdiagnosed as Juvenile Idiopathic Arthritis: Advanced Joint Destruction.
📚 EuropePMC94 artigos no totalmostrando 74
When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.
European journal of pediatricsIdentification and functional analysis of CCN6 variants in progressive pseudorheumatoid dysplasia: Exploring the potential role of ferroptosis and apoptosis in chondrocytes.
Genes & diseases[Clinical phenotype and genetic analysis of a patient with Progressive pseudorheumatoid dysplasia due to compound heterozygous variants of CCN6 gene and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsProgressive Pseudorheumatoid Dysplasia Misdiagnosed as Juvenile Idiopathic Arthritis: Advanced Joint Destruction.
CureusMolecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia.
International journal of molecular sciencesTreatment With Romosozumab In Progressive Pseudorheumatoid Dysplasia.
JCEM case reportsCould scoliosis at the age of 7 months be a manifestation of progressive pseudorheumatoid dysplasia? A case report.
Journal of medical case reportsGenetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.
American journal of medical genetics. Part AFrom childhood to adulthood: The long-term impact of progressive pseudorheumatoid dysplasia.
Joint bone spineCase Report: A Novel CCN6 Compound Heterozygous Mutation in Progressive Pseudorheumatoid Dysplasia.
International journal of rheumatic diseasesProximal Tibial Fracture in Pseudo-Rheumatoid Synovial Chondromatosis: A Case Study.
Journal of orthopaedic case reportsProgressive pseudorheumatoid dysplasia involving a novel CCN6 mutation: a case report.
Frontiers in immunologyFirst copy number variant in trans with single nucleotide variant in CCN6 causing progressive pseudorheumatoid dysplasia revealed by genome sequencing and deep phenotyping in monozygotic twins.
American journal of medical genetics. Part A[Bilateral total hip arthroplasty in a 15-year-old patient with progressive pseudorheumatoid dysplasia. Case report and literature review].
Acta ortopedica mexicanaMultiple Joint Replacements for Progressive Pseudorheumatoid Dysplasia: A Case Report.
Journal of orthopaedic case reportsCase 316: Progressive Pseudorheumatoid Dysplasia.
RadiologyProgressive pseudorheumatoid dysplasia involving a novel WISP3 mutation and sacroiliac and hip arthritis: A case report and literature review.
MedicineClinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia.
American journal of medical genetics. Part AA novel WISP3 mutation in a Chinese patient with progressive pseudorheumatoid dysplasia.
QJM : monthly journal of the Association of PhysiciansUnique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype-phenotype analysis of 105 patients.
World journal of pediatrics : WJPGait Alterations in Two Young Siblings with Progressive Pseudorheumatoid Dysplasia.
Children (Basel, Switzerland)A Rare Skeletal Dysplasia-Close Mimicker Of Juvenile Idiopathic Arthritis-Progressive Pseudorheumatoid Dysplasia.
Journal of Ayub Medical College, Abbottabad : JAMCMultiple disc herniation in spondyloepiphyseal dysplasia tarda: A rare case report and review of the literature.
BMC musculoskeletal disordersThe genetics of progressive pseudorheumatoid dysplasia.
QJM : monthly journal of the Association of PhysiciansMesenchymal stromal cells from a progressive pseudorheumatoid dysplasia patient show altered osteogenic differentiation.
European journal of medical researchThe genetics of progressive pseudorheumatoid dysplasia (PPRD).
QJM : monthly journal of the Association of PhysiciansA novel compound heterozygous mutation of WISP3 in progressive pseudorheumatoid dysplasia mimicking juvenile idiopathic arthritis.
QJM : monthly journal of the Association of PhysiciansThe rare reason of pain in hip girdle: Mucolipidosis type 3 gamma.
The Turkish journal of pediatricsSpecific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort.
Rheumatology (Oxford, England)Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report.
Journal of medical case reportsProgressive Pseudorheumatoid Dysplasia of Childhood (PPRD)-A Case Series with Recurrent c.740_741del Variant.
Journal of pediatric geneticsA retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment.
Clinical rheumatologyCase Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases.
Frontiers in geneticsProgressive pseudorheumatoid dysplasia: a case series report.
Translational pediatricsProgressive pseudorheumatoid dysplasia: A rare entity mimicking juvenile idiopathic arthritis.
Clinical case reportsReconstruction of anatomy and care provisioning in a severe case of spondyloepiphyseal dysplasia.
International journal of paleopathologyProgressive Pseudorheumatoid Dysplasia-Radiographic Evolution Over Twenty Years.
Arthritis & rheumatology (Hoboken, N.J.)Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study.
European journal of medical geneticsCcn6 Is Required for Mitochondrial Integrity and Skeletal Muscle Function in Zebrafish.
Frontiers in cell and developmental biologyCoexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis.
Pediatric rheumatology online journalNovel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia.
Clinical case reportsSpondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
American journal of medical genetics. Part ADelayed-onset progressive pseudorheumatoid dysplasia with secondary synovial chondromatosis.
BMJ case reportsCCN6 mutation detection in Chinese patients with progressive pseudo-rheumatoid dysplasia and identification of four novel mutations.
Molecular genetics & genomic medicineMulti-scale mechanical investigation of articular cartilage suffered progressive pseudorheumatoid dysplasia.
Clinical biomechanics (Bristol, Avon)Mid-Term Outcome of Total Hip Arthroplasty in Patients With Progressive Pseudorheumatoid Dysplasia.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseasesProgressive pseudorheumotoid dysplasia: A presentation of four cases with slow and rapid progression and effects of early rehabilitation program.
Turkish journal of physical medicine and rehabilitationA Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family.
Frontiers in pediatricsHigh Circulating Levels of IL-4 and IL-10 in Progressive Pseudorheumatoid Dysplasia Patient.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseasesProgressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature.
BMC medical geneticsProgressive pseudorheumatoid dysplasia: a report of three cases and a review of radiographic and magnetic resonance imaging findings.
Skeletal radiologyProgressive pseudorheumatoid dysplasia confirmed by whole-exon sequencing in a Chinese adult before corrective surgery.
Journal of orthopaedic surgery and research[Progressive pseudorheumatoid dysplasia misdiagnosed as ankylosing spondylitis: a case report].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesProgressive pseudorheumatoid dysplasia: a rare childhood disease.
Rheumatology internationalProgressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3.
Pediatric rheumatology online journalIlizarov technique in an adolescent patient with progressive pseudorheumatoid dysplasia: A case report.
MedicineAssociation analysis on polymorphisms in WISP3 gene and developmental dysplasia of the hip in Han Chinese population: A case-control study.
GeneLate diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.
Cold Spring Harbor molecular case studiesDelayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report.
BMC medical geneticsWISP3 mutation associated with pseudorheumatoid dysplasia.
Cold Spring Harbor molecular case studiesProgressive Pseudorheumatoid Dysplasia or JIA?
Case reports in rheumatologyNovel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families.
Human genome variationProgressive Pseudorheumatoid Dysplasia Misdiagnosed as Seronegative Juvenile Idiopathic Arthritis.
Ethiopian journal of health sciencesWISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198.
Bone & joint researchWhole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.
Scientific reportsAn Unusual Coexistence of Progressive Pseudorheumatoid Dysplasia and Relapsing Polychondritis.
Archives of rheumatologyEarly severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.
American journal of medical genetics. Part AProgressive pseudorheumatoid dysplasia: a close mimicker of juvenile idiopathic arthritis.
BMJ case reportsBiomechanics of walking in adolescents with progressive pseudorheumatoid arthropathy of childhood leads to physical activity recommendations as therapeutic focus.
Clinical biomechanics (Bristol, Avon)Progressive Pseudorheumatoid Dysplasia With Delayed Diagnosis.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseasesNovel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
Human mutationA novel compound WISP3 mutation in a Chinese family with progressive pseudorheumatoid dysplasia.
GeneIdentification of a mutation in the WISP3 gene in three unrelated families with progressive pseudorheumatoid dysplasia.
Molecular medicine reportsA homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings.
Human genome variationAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Identification and functional analysis of CCN6 variants in progressive pseudorheumatoid dysplasia: Exploring the potential role of ferroptosis and apoptosis in chondrocytes.
- When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.
- Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia.
- [Clinical phenotype and genetic analysis of a patient with Progressive pseudorheumatoid dysplasia due to compound heterozygous variants of CCN6 gene and a literature review].Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics· 2025· PMID 41230593mais citado
- Progressive Pseudorheumatoid Dysplasia Misdiagnosed as Juvenile Idiopathic Arthritis: Advanced Joint Destruction.
- Progressive Pseudorheumatoid Dysplasia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1159(Orphanet)
- OMIM OMIM:208230(OMIM)
- MONDO:0008827(MONDO)
- GARD:9184(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q11825217(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
