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Progressive Pseudorheumatoid Dysplasia

PPAC


Presentation

  • PPAC has an early age of onset, with most affected children presenting with disease features by the age of 8-years. The major presenting features include difficulty in walking, muscle weakness, pain, arthropathy, and skeletal deformities.[cags.org.ae]
  • Clinical description Most patients present the disease before the age of 8 years (the onset varies between 2 and 11 years). Typically, there are no symptoms in the newborn period.[orpha.net]
  • Due to its presentation with joint stiffness and finger swelling, it is frequently misdiagnosed as polyarticular juvenile idiopathic arthritis (JIA).[acrabstracts.org]
  • However, the exact mechanism of the disease is not clear at the present. The clinical course of the present patient is typical for the disease.[docslide.net]
  • Hum Genet 1998; 103: 604.9 van Buggenhout G, De Smet L, Maroteaux P, Fryns JP.Progressive pseudorheumatoid dysplasia: report of a patientwith symptoms present at birth.[myslide.es]
Fatigue
  • The disease manifests around the age of three to eight years and progresses with symptoms of early fatigue, muscle weakness, joint swelling and stiffness. The resulting functional limitations are often described as having a waddling gait.[ncbi.nlm.nih.gov]
  • Fatigue, muscle weakness, waddling gait, bowed legs and joint stiffness may be early manifestations. read more NGS/Del Dup Comprehensive Turnaround Time: Typically 1 to 2 weeks from receipt of a sample in the laboratory.[ctgt.net]
  • Major symptoms include stiffness of joints, bony swellings of toes and fingers, weakened muscles, fatigue and bowed legs.[ashg.org]
Turkish
  • […] diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy. ( 12819927 ) Ehl S....Kirchhoff A. 2004 37 Mega os trigonum in progressive pseudorheumatoid dysplasia. ( 11819063 ) Oestreich AE 2002 38 An eleven-year-old female Turkish[malacards.org]
  • An eleven-year-old female Turkish patient with progressive pseudorheuma-toid dysplasia mimicking juvenile idiopathic arthritis. Clin ExpRheumatol 2001; 19: 759.7 el-Shanti H, Murray JC, Semina EV, Beutow KH, Scherpbier T,al-Alami J.[myslide.es]
  • An eleven- year-old female Turkish patient with progressive pseudorheuma- toid dysplasia mimicking juvenile idiopathic arthritis. Clin Exp Rheumatol 2001; 19: 759. 7 el-Shanti H, Murray JC, Semina EV, Beutow KH, Scherpbier T, al-Alami J.[docslide.net]
  • Targeted analysis for pathogenic variants can include the following: c.156C A (p.Cys52Ter) is the most frequent pathogenic variant in Turkish patients and accounts for approximately 28% of pathogenic variants worldwide [Author, review of the literature[ncbi.nlm.nih.gov]
  • The phenotype of the male from family 1 in this study was no milder than that of the Turkish patient.[spandidos-publications.com]
Bony Swelling
  • It is characterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly.[doi.org]
  • Major symptoms include stiffness of joints, bony swellings of toes and fingers, weakened muscles, fatigue and bowed legs.[ashg.org]
  • It is char- acterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly.[docslide.net]
  • Femoral T and Z scoreswere8.87and10.26, respectively.The patient was diagnosed with PPAC based on the typicalclinical (childhood onset, bony swelling of interphalangealjoints, gradual decrease in joint mobility, disabling hip andback pain, lack of overt[myslide.es]
  • His examination was notable for bony swelling and restricted motion of the proximal and distal IP joints of the fingers and toes, limited range of motion in the wrists, flexion contractures of the elbows, markedly limited range of motion in both shoulders[academic.oup.com]
Arthralgia
  • It is characterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly.[doi.org]
  • It is char-acterised with arthralgia, joint contractures, bony swellingof metacarpophalangeal and interphalangeal joints andplatyspondyly.[myslide.es]
  • It is char- acterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly.[docslide.net]
  • PPD patient symptoms were more severe with advancing age; and 3. in contrast with previously reported cases, arthralgia was not clearly observed in these two families, excluding the hip pain observed in the advanced stage of the disease.[journals.plos.org]
Long Arm
  • Homozygosity mapping using DNA pooling approach performed by El-Shanti et al. (1998) showed linkage in a 20 cM region on the long arm of chromosome 6.[cags.org.ae]
  • Toour knowledge, this is the third case report of a patient withPPAC from Turkey (5,6).Initial mapping studies assigned the gene responsible forthe disease to the long arm of chromosome 6.[myslide.es]
  • Initial mapping studies assigned the gene responsible for the disease to the long arm of chromosome 6. However, examination of COL10A1, which is a candidate gene in this region, did not reveal any mutations (7,8).[docslide.net]
Osteophyte
  • X-rays demonstrated joint space narrowing and osteophytes without erosions at the proximal and distal IP and MCP joints of the hands, the intercarpal joints, the glenohumeral joints, the tibiotalar joints and the intertarsal joints ( Fig. 1 ).[academic.oup.com]
  • Osteophytic formations and periarticular calcifications can be seen. Figure 2. Radiographs of hands show large epiphyses and widened metaphyses of metacarpals and phalanges. Joint space is also reduced. Figure 3.[ncbi.nlm.nih.gov]
Joint Limitation
  • In the mucopolysaccharidoses (MPSs) the vertebral deformities (hook-shaped vertebral bodies with inferior beaking or platyspondyly with central beaking) and progressive joint limitation are similar to those of PPD.[ncbi.nlm.nih.gov]
Withdrawn
  • […] symbols: WISP-3, WISP3 ) Mouse Orthologs Ccn6 (Withdrawn symbols: ENSMUSG00000062074, Gm735, Wisp3 ) Source OMIM:208230 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes[mousephenotype.org]
Cesarean Section
  • Pregnancy Management Deformities of pelvis may necessitate delivery by cesarean section in pregnant women who have PPD.[ncbi.nlm.nih.gov]

Workup

  • Contributors: RM carried out the clinical workup and also drafted the manuscript. She will act as the guarantor for the paper. SV was responsible for the radiological aspects and co-drafted the manuscript. Funding : None.[indianpediatrics.net]

Treatment

  • Treatment - Progressive pseudorheumatoid arthropathy of childhood There is still no cure. Treatment may include pain medication and hip and knee joint replacement surgery at an early age.[checkorphan.org]
  • Management and treatment There is no specific treatment for PPAC. No clear prevention, improvement or slowing the disease course with anti-inflammatory drugs has been demonstrated.[orpha.net]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Early diagnosis and treatment is required. Read more »[sehat.com]
  • Affected children are referred to pediatric rheumatologists and orthopedic surgeons; however, signs of inflammation are absent and anti-inflammatory treatment is of little help.[amrita.edu]

Prognosis

  • Prognosis - Progressive pseudorheumatoid arthropathy of childhood Not supplied. Treatment - Progressive pseudorheumatoid arthropathy of childhood There is still no cure.[checkorphan.org]
  • Prognosis PPAC does not affect life expectancy, but the progressive nature of the disease frequently requires joint replacement by early adulthood. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Therefore, follow-up periods should proceed to acquire progression and prognosis data.[journals.plos.org]

Etiology

  • Confirmatory testing is in progress in the parents in order to confirm phase (cis/trans) of the variants and provide further support for the molecular etiology of the disorder in this family.[ashg.org]
  • Etiology The responsible gene WISP3 (mapping to human chromosome 6q22) encodes a secreted growth regulator. Diagnostic methods Diagnosis is based on clinical and radiographic findings. Molecular testing is available on research basis.[orpha.net]
  • Relapsing polychondritis is a rare autoimmune disorder of unknown etiology, characterized by episodic inflammation/destruction of cartilaginous structures including the ear, nose, peripheral joints and tracheobronchial tree.( 4, 12 ) Immune damage may[archivesofrheumatology.org]

Epidemiology

  • Summary Epidemiology The prevalence has been estimated at 1/1,000,000 but it is likely to be higher in the Middle East and the Maghreb.[orpha.net]
  • Relevant External Links for WISP3 Genetic Association Database (GAD) WISP3 Human Genome Epidemiology (HuGE) Navigator WISP3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: WISP3 No data available for Genatlas for WISP3 Gene WISP genes[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology of CCN6 variants resulting in PPD is not completely understood. However, studies show that WISP-3 expression is significantly reduced in the chondrocytes of individuals with PPD [ Zhou et al 2007 ].[ncbi.nlm.nih.gov]

Prevention

  • Aims of this study were to determine typical malpositions that arise during walking and to identify preventive strategies to reduce excessive joint damage.[ncbi.nlm.nih.gov]
  • […] dysplasia, Spondyloepiphyseal dysplasia tarda - progressive arthropathy, Arthropathy- progressive pseudorheumatoid- of childhood Symptoms - Progressive pseudorheumatoid arthropathy of childhood Causes - Progressive pseudorheumatoid arthropathy of childhood Prevention[checkorphan.org]
  • No clear prevention, improvement or slowing the disease course with anti-inflammatory drugs has been demonstrated.[orpha.net]
  • Therapeutic preventive strategies therefore should consider continuous muscle power exercises, stretching programmes and restrictive weight control.[sg.tum.de]

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