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 Table of Contents  
LETTER TO EDITOR
Year : 2019  |  Volume : 14  |  Issue : 1  |  Page : 83-84

Progressive pseudorheumatoid dysplasia: A mimicker of juvenile idiopathic arthritis


Department of Pediatrics, Nanavati Super Speciality Hospital, Mumbai, Maharashtra, India

Date of Web Publication14-Mar-2019

Correspondence Address:
Dr. Sikha Agarwal
Division of Pediatric Rheumatology, Department of Pediatrics, Nanavati Super Speciality Hospital, Vile Parle, Mumbai - 400 056, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/injr.injr_132_18

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How to cite this article:
Agarwal S, Pethe A, Nayak A. Progressive pseudorheumatoid dysplasia: A mimicker of juvenile idiopathic arthritis. Indian J Rheumatol 2019;14:83-4

How to cite this URL:
Agarwal S, Pethe A, Nayak A. Progressive pseudorheumatoid dysplasia: A mimicker of juvenile idiopathic arthritis. Indian J Rheumatol [serial online] 2019 [cited 2019 Jun 20];14:83-4. Available from: http://www.indianjrheumatol.com/text.asp?2019/14/1/83/246313



Dear Editor,

Joint pain and swelling in the pediatric age group is a clinical challenge. It may be a manifestation of a benign disorder such as growing pains or an indicator of serious systemic disorder. We report a child who presented with multiple joint swelling and was finally diagnosed as progressive pseudorheumatoid dysplasia (PPRD).

A 10-year-old girl presented with complaints of symmetrical swelling of small joints of the upper limb-both distal and proximal interphalangeal joints and later involvement of bilateral ankle and right knee gradually over the past 5 years. For the last 6 months, the child had hip pain and was unable to walk. Clinical examination revealed camptodactyly and restriction of movements in the same joints, but no redness/increase in local temperature. Blood examination revealed normal erythrocyte sedimentation rate, C-reactive protein, and rheumatoid factor. Radiographs of the hand and the wrist showed generalized osteopenia but no erosive lesions. X-rays of the spine revealed platyspondyly with anterior beaking in the lower thoracic and upper lumbar vertebra. X-ray pelvis showed narrowing of the hip joint spaces bilaterally with flattening and irregularity of the femoral heads more prominent on the right side [Figure 1]. She had many oddities for the diagnosis of juvenile Idiopathic arthritis (JIA) as to the pattern of joint involvement, no erosions, negative for markers of inflammation, and no response to anti-inflammatory medications. She was a case of PPRD.
Figure 1: X-ray pelvis showing (1) Narrowing of the hip joint spaces bilaterally, (2) Flattening and irregularity of the femoral heads more prominent on the right side (arrow)

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PPRD is an autosomal recessive disorder; usually manifests between 3 and 8 years of age with symmetric polyarthralgia with nonsynovial swelling of the proximal interphalangeal joints, elbows, knees, and ankles.[1] A reduction in joint mobility and multiple contractures lead to severe disability.[2] Short stature is a consistent finding which results from spinal abnormalities.[3] Genetic alterations in the WISP3 gene, located in 6q22 which encodes proteins which are expressed in synoviocytes and chondrocytes have been implicated in the pathogenesis of PPRD.[4]

We thus conclude that the pattern recognition of symptoms is important for a clinician as PPRD is an important mimicker of JIA. Appropriate X-ray, especially of the pelvis and spine, can give an important clue to diagnosis.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Bennani L, Amine B, Ichchou L, Lazrak N, Hajjaj-Hassouni N. Progressive pseudorheumatoid dysplasia: Three cases in one family. Joint Bone Spine 2007;74:393-5.  Back to cited text no. 1
    
2.
Duarte-Salazar C, Santillán-Chapa CG, Martínez-Coria E, Marin-Arriaga N, Miranda-Duarte A. Pseudorheumatoid dysplasia. A rare genetic disorder simulating juvenile idiopathic arthritis. Reumatol Clin 2013;9:316-8.  Back to cited text no. 2
    
3.
Adak B, Tekeoğlu I, Sakarya ME, Uğraş S. Progressive pseudorheumatoid chondrodysplasia: A hereditary disorder simulating rheumatoid arthritis. Clin Rheumatol 1998;17:343-5.  Back to cited text no. 3
    
4.
Dalal A, Bhavani G SL, Togarrati PP, Bierhals T, Nandineni MR, Danda S, et al. Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. Am J Med Genet A 2012;158A:2820-8.  Back to cited text no. 4
    


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