Literature DB >> 31663079

Progressive pseudorheumotoid dysplasia: A presentation of four cases with slow and rapid progression and effects of early rehabilitation program.

Esra Giray1, İlker Yağcı1, Huriye Nursel Elçioğlu2,3.   

Abstract

Progressive pseudorheumotoid dysplasia (PPD) is a rare hereditary musculoskeletal disorder which is usually misdiagnosed due to its clinical resemblance to juvenile idiopathic arthritis. It has a high incidence in the Middle East, Gulf States, and countries of Mediterranean basin. Herein, we present four cases of PPD from Turkey (two siblings pair from the same kindred who are far paternal cousins) showing different disease courses. The progression of disease was particularly aggressive in the male sibling who suffered from severe scoliosis with more crippling joint disease. These four cases of PPD support the clinical heterogeneity and variable expressivity of PPD. In this article, we draw attention to the effects of patient education and early rehabilitation which helped to slow progression of range of motion loss.
Copyright © 2019, Turkish Society of Physical Medicine and Rehabilitation.

Entities:  

Keywords:  Juvenile idiopathic arthritis; progressive arthropathy; progressive pseudorheumatoid dysplasia

Year:  2019        PMID: 31663079      PMCID: PMC6797915          DOI: 10.5606/tftrd.2019.2694

Source DB:  PubMed          Journal:  Turk J Phys Med Rehabil        ISSN: 2587-1250


  27 in total

1.  An eleven-year-old female Turkish patient with progressive pseudorheumatoid dysplasia mimicking juvenile idiopathic arthritis.

Authors:  S Balci; E Aypar; O Kasapçopur; B Tüysüz; N Arisoy
Journal:  Clin Exp Rheumatol       Date:  2001 Nov-Dec       Impact factor: 4.473

2.  Spondyloepiphyseal dysplasia tarda with progressive arthropathy complicated with paraplegia.

Authors:  Ozlem Yoleri; Bengi Oz; Neşe Olmez; Asuman Memi; Fazl Gelal
Journal:  Am J Phys Med Rehabil       Date:  2011-06       Impact factor: 2.159

3.  Progressive Pseudorheumatoid Dysplasia With Delayed Diagnosis.

Authors:  Mustafa Turgut Yildizgoren; Ali Sahin; Kasim Osmanoglu; Ayşe Dicle Turhanoglu
Journal:  J Clin Rheumatol       Date:  2015-09       Impact factor: 3.517

4.  Spondyloepiphyseal dysplasia tarda with progressive arthropathy.

Authors:  H Kocyigit; R Arkun; F Ozkinay; O Cogulu; N Hizli; A Memis
Journal:  Clin Rheumatol       Date:  2000       Impact factor: 2.980

5.  Progressive pseudorheumatoid dysplasia: a close mimicker of juvenile idiopathic arthritis.

Authors:  Partha Pratim Chakraborty; Sugata Narayan Biswas; Shinjan Patra; Gouranga Santra
Journal:  BMJ Case Rep       Date:  2016-03-09

6.  An Unusual Coexistence of Progressive Pseudorheumatoid Dysplasia and Relapsing Polychondritis.

Authors:  Gamze Kiliç; Erkan Kiliç; Özgür Akgül; Nimet Atakul; Salih Özgöçmen
Journal:  Arch Rheumatol       Date:  2016-04-13       Impact factor: 1.472

7.  Spondyloepiphyseal dysplasia tarda with progressive arthropathy.

Authors:  N Kaibara; K Takagishi; I Katsuki; M Eguchi; S Masumi; A Nishio
Journal:  Skeletal Radiol       Date:  1983       Impact factor: 2.199

8.  Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.

Authors:  Lucia Sentchordi Montané; Oliver R Marín; Carlos I Rivera-Pedroza; Elena Vallespín; Ángela Del Pozo; Karen E Heath
Journal:  Am J Med Genet A       Date:  2016-03-17       Impact factor: 2.802

Review 9.  The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

Authors:  Nuria Garcia Segarra; Laureane Mittaz; Ana Belinda Campos-Xavier; Cynthia F Bartels; Beyhan Tuysuz; Yasemin Alanay; Rolando Cimaz; Valerie Cormier-Daire; Maja Di Rocco; Hans-Christoph Duba; Nursel H Elcioglu; Francesca Forzano; Toni Hospach; Esra Kilic; Jasmin B Kuemmerle-Deschner; Geert Mortier; Sonja Mrusek; Sheela Nampoothiri; Ewa Obersztyn; Richard M Pauli; Angelo Selicorni; Romano Tenconi; Sheila Unger; G Eda Utine; Michael Wright; Bernhard Zabel; Matthew L Warman; Andrea Superti-Furga; Luisa Bonafé
Journal:  Am J Med Genet C Semin Med Genet       Date:  2012-07-12       Impact factor: 3.908

10.  Dual-energy X-ray absorptiometry interpretation and reporting in children and adolescents: the revised 2013 ISCD Pediatric Official Positions.

Authors:  Nicola J Crabtree; Asma Arabi; Laura K Bachrach; Mary Fewtrell; Ghada El-Hajj Fuleihan; Heidi H Kecskemethy; Maciej Jaworski; Catherine M Gordon
Journal:  J Clin Densitom       Date:  2014-03-29       Impact factor: 2.617

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  2 in total

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

Authors:  Lei Yin; Youying Mao; Yunfang Zhou; Yongnian Shen; Huijin Chen; Wei Zhou; Yanliang Jin; Hua Huang; Yongguo Yu; Jian Wang
Journal:  Clin Rheumatol       Date:  2021-10-21       Impact factor: 2.980

2.  Delayed-onset progressive pseudorheumatoid dysplasia with secondary synovial chondromatosis.

Authors:  Pratyush Shahi; Apoorv Sehgal; Aarushi Sudan; Shreya Sehgal
Journal:  BMJ Case Rep       Date:  2020-05-18
  2 in total

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