Literature DB >> 29396697

Multicentric carpotarsal osteolysis syndrome: long-term follow-up of three patients.

Céline Klein1, Jonathan Bellity2, Georges Finidori2, Christophe Glorion2, Stéphanie Pannier2.   

Abstract

Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal disorder characterized by progressive carpal and tarsal destruction. The upper and lower limbs may be involved, leading to deformities and joint limitation. These anatomic features may be associated with progressive renal failure. The radiographs obtained during childhood showed a carpal and tarsal osteolysis and an asymmetrical involvement. Here, we report on the long-term clinical and radiological findings of three patients with skeletal manifestations of MCTO.

Entities:  

Keywords:  Multicentric carpotarsal osteolysis

Mesh:

Year:  2018        PMID: 29396697     DOI: 10.1007/s00256-018-2874-z

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN: 0364-2348            Impact factor:   2.199


  12 in total

1.  HEREDITARY OSTEOLYSIS WITH HYPERTENSION AND NEPHROPATHY.

Authors:  D B SHURTLEFF; R S SPARKES; D K CLAWSON; W G GUNTHEROTH; N K MOTTET
Journal:  JAMA       Date:  1964-04-27       Impact factor: 56.272

2.  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

3.  Idiopathic multicentric osteolysis.

Authors:  T Tyler; H D Rosenbaum
Journal:  AJR Am J Roentgenol       Date:  1976-01       Impact factor: 3.959

4.  Idiopathic carpal tarsal osteolysis (ICTO) with additional elbow involvement.

Authors:  Farzanah Ismail; Craig Muller; Ruan Goller; Zarina I Lockhat; Savvas Andronikou
Journal:  Skeletal Radiol       Date:  2011-08-09       Impact factor: 2.199

5.  Familial osteolysis of the carpal and tarsal bones.

Authors:  J Gluck; J J Miller
Journal:  J Pediatr       Date:  1972-09       Impact factor: 4.406

6.  Nosology and classification of genetic skeletal disorders: 2015 revision.

Authors:  Luisa Bonafe; Valerie Cormier-Daire; Christine Hall; Ralph Lachman; Geert Mortier; Stefan Mundlos; Gen Nishimura; Luca Sangiorgi; Ravi Savarirayan; David Sillence; Jürgen Spranger; Andrea Superti-Furga; Matthew Warman; Sheila Unger
Journal:  Am J Med Genet A       Date:  2015-09-23       Impact factor: 2.802

7.  The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability.

Authors:  Cybel Mehawej; Jean-Benoît Courcet; Geneviève Baujat; Richard Mouy; Marion Gérard; Isabelle Landru; Morgane Gosselin; Philippe Koehrer; Christiane Mousson; Sylvain Breton; Pierre Quartier; Martine Le Merrer; Laurence Faivre; Valérie Cormier-Daire
Journal:  Am J Med Genet A       Date:  2013-08-16       Impact factor: 2.802

8.  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

9.  Carpal-tarsal osteolysis with elbow involvement.

Authors:  Kirsteen McDonald; Andoni P Toms; Kate Armon; Karl Johnson; Thomas J Marshall
Journal:  Skeletal Radiol       Date:  2007-07-06       Impact factor: 2.199

10.  The orthopedic and renal manifestations of idiopathic carpal tarsal osteolysis.

Authors:  Kelly D Carmichael; Robert A Launikitis; Alok Kalia
Journal:  J Pediatr Orthop B       Date:  2007-11       Impact factor: 1.041

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  5 in total

1.  Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a MAFB Missense Variant and Natural History of the Disease.

Authors:  Kelin Chen; Malú Zamariolli; Maria de Fátima de Faria Soares; Vera Ayres Meloni; Maria Isabel Melaragno
Journal:  Mol Syndromol       Date:  2021-08-27

2.  Multicentric carpotarsal osteolysis syndrome (MCTO) with generalized high bone turnover and high serum RANKL: Response to denosumab.

Authors:  Ravit Regev; Etienne B Sochett; Yesmino Elia; Ronald M Laxer; Damien Noone; Kristi Whitney-Mahoney; Kornelia Filipowski; Amer Shamas; Reza Vali
Journal:  Bone Rep       Date:  2021-01-08

3.  Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review.

Authors:  Stefania Drovandi; Francesca Lugani; Olivia Boyer; Edoardo La Porta; Paolo Giordano; Aurélie Hummel; Bertrand Knebelmann; Joséphine Cornet; Genevieve Baujat; Beata S Lipska-Ziętkiewicz; Gian Marco Ghiggeri; Gianluca Caridi; Andrea Angeletti
Journal:  J Clin Med       Date:  2022-07-29       Impact factor: 4.964

4.  Mice harboring an MCTO mutation exhibit renal failure resembling nephropathy in human patients.

Authors:  Yuki Tsunakawa; Michito Hamada; Yurina Matsunaga; Sayaka Fuseya; Hyojung Jeon; Yuji Wakimoto; Toshiaki Usui; Maho Kanai; Seiya Mizuno; Naoki Morito; Satoru Takahashi
Journal:  Exp Anim       Date:  2018-10-26

5.  Role of MafB in macrophages.

Authors:  Michito Hamada; Yuki Tsunakawa; Hyojung Jeon; Manoj Kumar Yadav; Satoru Takahashi
Journal:  Exp Anim       Date:  2019-10-01
  5 in total

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