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]

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]

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]

Due to its presentation with joint stiffness and finger swelling, it is frequently misdiagnosed as polyarticular juvenile idiopathic arthritis (JIA). [acrabstracts.org]

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]

• Swelling

  It should also be emphasised that joint swelling is osseous in nature and is not due to synovial involvement. [docslide.net]

  Major symptoms include stiffness of joints, bony swellings of toes and fingers, weakened muscles, fatigue and bowed legs. [ashg.org]

  Swelling of the interphalangeal articulations was found to be his first clinical abnormality. [journals.plos.org]

  The main reasons of confusion appear to beearly onset at childhood, swelling and restriction of peripheraland axial joints. [myslide.es]

  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. [scipers.com]

• Pain

  He is in incredible amounts of pain every day of his life and has endured numerous surgeries to help support and replace parts of his body that could no longer function. [opedge.com]

  Pain due to secondary osteoarthritis may respond to NSAIDs. [ncbi.nlm.nih.gov]

  Medical management of PPRD remains symptomatic and relies on pain medication. Hip joint replacement surgery in early adulthood is effective in reducing pain and maintaining mobility and can be recommended. [amrita.edu]

  Findings at admission included inflammatory joint pain, joint swelling, range-of-motion limitation, and joint deformities in the hands, wrists, ankles, and knees. The hips were normal. [unboundmedicine.com]

  C A S E A 46-year-old male patient was admitted due to back and hip pain of 4 years duration. [docslide.net]

• Weakness

  INTERPRETATION: The deficits can be attributed to pronounced muscle weakness plus functional joint impairment and pain. [ncbi.nlm.nih.gov]

  Typical signs are prominent epiphysis, progressive joint stiffness, muscle weakness and early fatigue [ 1 ]. Optimized physiotherapy is the only effective strategy to slow down the progress of functional disability. [ped-rheum.biomedcentral.com]

  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. [scipers.com]

  Interpretation: The deficits can be attributed to pronounced muscle weakness plus functional joint impairment and pain. [sg.tum.de]

  The skeletal disorder and is charac-terized by polyarthropathy of large and small joints.Typical signs are prominent epiphysis, progressive jointstiffness, muscle weakness and early fatigue [1]. [docslide.com.br]

• Inflammation

  Also, he had recurrent episodes of inflammation on his ears and nose (he declared at least three clinically evident episodes). His symptoms related to RP were in remission for the last four years. [archivesofrheumatology.org]

  The brother, who was 14 years old, had similar manifestations without laboratory evidence of inflammation; radiographs disclosed dysplasia of the hips and metacarpophalangeal epiphyses. [unboundmedicine.com]

  Clinical and laboratory signs of joint inflammation such as synovitis, a high erythrocyte sedimentation rate and an elevated C‐reactive protein level are usually absent. [doi.org]

  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]

  Patients with PPD have bony enlargement of the finger joints without evidence of inflammation. As children with PPD become older, they develop skeletal changes that resemble common osteoarthritis and their joints can become quite painful. [childrenshospital.org]

• 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. [scipers.com]

  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]

• Arthritis

  It should be included among the differential diagnoses of juvenile idiopathic arthritis. [unboundmedicine.com]

  The initial clinical symptoms, which usually appear between 3 and 8 years of age, are similar to the symptoms of juvenile idiopathic arthritis. [termedia.pl]

  All the laboratory test results for rheumatoid arthritis were negative. The clinical and radiological findings of the patient are illustrated. [ncbi.nlm.nih.gov]

  Boros Published in Arthritis Rheum 2012; 64 Suppl 10:317 Arthritis in Childhood Weng Tarng Cham Presented in World Arthritis Day organised by Arthritis Foundation of Malaysia 2012 Fatty Acid Profiling In Juvenile Idiopathic Arthritis: The Balance between [sunwaymedical.com]

  Progressive pseudorheumatoid arthritis of childhood (PPAC). A hereditary disorder simulating rheumatoid arthritis. Eur J Pediatr 1983;140:34-40. Letko E, Zafirakis P, Baltatzis S, Voudouri A, Livir- Rallatos C, Foster CS. [archivesofrheumatology.org]

• Platyspondyly

  Magnetic resonance imaging of thoracolumbar spine demonstrated irregularity in vertebral end-plates, multiple disk herniations, and platyspondyly (Figure 5). [archivesofrheumatology.org]

  It is char- acterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. [docslide.net]

  The main clinical features are arthralgia, jointcontractures, enlarged metacarpophalangeal and interphalan-geal joints, platyspondyly and short stature. [myslide.es]

  Platyspondyly develops in late childhood and can be the first clue to the diagnosis. Enlargement of the phalangeal metaphyses develops subtly and is usually recognizable by 10 years. [amrita.edu]

  In the spine platyspondyly and narrow intervertebral disc spaces are typical. [termedia.pl]

• Muscle Weakness

  INTERPRETATION: The deficits can be attributed to pronounced muscle weakness plus functional joint impairment and pain. [ncbi.nlm.nih.gov]

  weakness, progressive pseudorheumatoid dysplasia, rare disease, Progressive pseudorheumatoid arthropathy of childhood bone dysplasia, gait analysis, muscle weakness, progressive pseudorheumatoid dysplasia, rare disease, Progressive pseudorheumatoid arthropathy [scipers.com]

  Interpretation: The deficits can be attributed to pronounced muscle weakness plus functional joint impairment and pain. [sg.tum.de]

• Osteoporosis

  Radiological examination showed spondyloepiphyseal dysplasia, severe acetabular irregularity and osteoporosis. All the laboratory test results for rheumatoid arthritis were negative. [ncbi.nlm.nih.gov]

  Radiographic imaging, the most important for diagnosis, revealed widened epiphyses and metaphyses of bones, generalized osteoporosis of bones, and narrowing of articular spaces. [termedia.pl]

  […] interphalangeal joints ; Enlarged metacarpophalangeal joints ; Enlargement of the proximal femoral epiphysis ; Flattened epiphysis ; Genu varum ; Joint stiffness ; Joint swelling ; Kyphoscoliosis ; Metaphyseal widening ; Muscle weakness ; Osteoarthritis ; Osteoporosis [mousephenotype.org]

  Radiologically, the condition presents as SED with osteoporosis. The presence of an enlarged trigonium in the foot and synovial osteochondromatosis can be helpful for diagnosis. [orpha.net]

  […] innermost thighbone 0003371 Genu varum Outward bow-leggedness Outward bowing at knees [ more ] 0002970 Joint swelling 0001386 Kyphoscoliosis 0002751 Metaphyseal widening Broad wide portion of long bone 0003016 Muscle weakness Muscular weakness 0001324 Osteoporosis [rarediseases.info.nih.gov]

• Lordosis

  Many patients have spinal involvement manifesting as exaggerated lumbar lordosis, thoracic kyphosis, and/or scoliosis. Radiologically, the condition presents as SED with osteoporosis. [orpha.net]

  Many patients have spinal involvement manifesting as exaggerated lumbar lordosis, thoracic kyphosis, and/or scoliosis. Q77.7 is a billable ICD-10 medical codes that provide a detailed representation of a patient's conditions or diagnoses. [codelay.com]

  Short neck Dentition normal Harrison sulcus seen Lordosis present Ul & LL muscles, Thenar and introssei wasting and contractures seen Widening of both major and minor joints seen 9. coxa-vara and genu valgum seen Flat foot seen Movements of all joints [slideshare.net]

  Movements of all joints were restricted, including neck and spine (with loss of lumbar lordosis), shoulder, elbow, wrist, knee, ankle and small joints of hands and feet, the restriction being maximum in the distal joints as compared to the proximal joints [indianpediatrics.net]

  Lordosis may also be seen. The neck is only occasionally involved [ Dalal et al 2012 ]. Height. Height is initially normal; however, short stature becomes evident as the skeletal changes progress. [ncbi.nlm.nih.gov]

• Hyperactivity

  Myoclonus Abnormality of the dentition Mental deterioration Blindness Tremor Spasticity Cataract Nystagmus Ataxia Global developmental delay Abnormal pyramidal sign Abnormality of the nervous system Delayed calcaneal ossification Abnormality of the nail Hyperactive [mendelian.co]

• Apathy

  Government apathy and financial problems deprived people of access to any sort of treatment. Following directions issued by the Governor, J&K’s Department of Health has now drawn up an action plan to deal with the crisis. [dnaindia.com]

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]

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]

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]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Early diagnosis and treatment is required. Read more » [sehat.com]

Her symptoms did not respond to nonsteroid anti-inflammatory treatment. During her last hospitalisation period, she was reinvestigated. Radiological examination showed spondyloepiphyseal dysplasia, severe acetabular irregularity and osteoporosis. [ncbi.nlm.nih.gov]

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]

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]

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]

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]

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]

Therapeutic preventive strategies therefore should consider continuous muscle power exercises, stretching programmes and restrictive weight control. [sg.tum.de]

[…] 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]

0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis [codelay.com]