Literature DB >> 3041835

Idiopathic multicentric osteolysis: report of two new cases and a review of the literature.

G S Pai1, R I Macpherson.   

Abstract

Idiopathic multicentric osteolysis is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bones usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of this syndrome. Mental retardation and minor facial abnormalities have been noted in some patients. We report on 2 unrelated, sporadic cases, one with facial anomalies and the other with nephropathy. Our second patient is the first black child to be diagnosed with this disease. The mode of presentation, differential diagnosis, and natural history of this disorder are briefly reviewed.

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Year:  1988        PMID: 3041835     DOI: 10.1002/ajmg.1320290425

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  9 in total

1.  Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

Authors:  Andreas Zankl; Emma L Duncan; Paul J Leo; Graeme R Clark; Evgeny A Glazov; Marie-Claude Addor; Troels Herlin; Chong Ae Kim; Bruno P Leheup; Jim McGill; Steven McTaggart; Stephan Mittas; Anna L Mitchell; Geert R Mortier; Stephen P Robertson; Marie Schroeder; Paulien Terhal; Matthew A Brown
Journal:  Am J Hum Genet       Date:  2012-03-01       Impact factor: 11.025

2.  Cyclic intravenous pamidronate treatment in children with nodulosis, arthropathy and osteolysis syndrome.

Authors:  S M Al-Mayouf; S M Madi; B S Bin-Abbas
Journal:  Ann Rheum Dis       Date:  2006-12       Impact factor: 19.103

3.  Idiopathic multicentric osteolysis: a rare disease mimicking juvenile chronic arthritis.

Authors:  M M Costa; H Santos; M J Santos; A Medeira; T Da Costa; V De Queiroz
Journal:  Clin Rheumatol       Date:  1996-01       Impact factor: 2.980

4.  A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome.

Authors:  Jariya Upadia; Alicia Gomes; Peter Weiser; Maria Descartes
Journal:  J Pediatr Genet       Date:  2018-06-16

5.  Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.

Authors:  Steven Mumm; Margaret Huskey; Shenghui Duan; Deborah Wenkert; Katherine L Madson; Gary S Gottesman; Angela R Nenninger; Ronald M Laxer; William H McAlister; Michael P Whyte
Journal:  Am J Med Genet A       Date:  2014-07-02       Impact factor: 2.802

6.  Carpal and tarsal osteolysis: an MRI, angiographic and histopathologic study.

Authors:  I H Choi; D Y Lee; K S Nam; I O Kim; C I Scott
Journal:  Pediatr Radiol       Date:  1993

7.  Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis.

Authors:  Marianne R Faber; René Verlaak; Theo J W Fiselier; Ben C J Hamel; Marcel J A M Franssen; G Peter J M Gerrits
Journal:  Eur J Pediatr       Date:  2004-10       Impact factor: 3.183

8.  Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans.

Authors:  Aleksandra Stajkovska; Sanja Mehandziska; Margarita Stavrevska; Kristina Jakovleva; Natasha Nikchevska; Zan Mitrev; Ivan Kungulovski; Gjorgje Zafiroski; Velibor Tasic; Goran Kungulovski
Journal:  Front Genet       Date:  2018-04-05       Impact factor: 4.599

9.  The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in Asian.

Authors:  Pongsakorn Choochuen; Kitiwan Rojneuangnit; Thanitchet Khetkham; Sookkasem Khositseth
Journal:  Case Rep Med       Date:  2018-09-16
  9 in total

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