Literature DB >> 7538882

Metachondromatosis.

A G Hunter1, K Kozlowski, O Hochberger.   

Abstract

OBJECTIVES: To draw attention to metachondromatosis, which may be misdiagnosed as multiple osteochondromatosis, and to point out several findings that have not been emphasized in previous reports. PATIENTS AND
METHOD: The authors reviewed the relevant clinical and detailed radiographic findings for five patients from different countries, who underwent imaging at various ages during childhood.
RESULTS: Deformities resembling exostoses and punctate calcification were distinctive and represent previously unemphasized features of vertebral involvement in metachondromatosis. Widespread metaphyseal changes were best seen in the femoral necks, which were broad and showed prominent cartilage columns in all of the patients. Flattening of the femoral heads was observed in three patients; in one of these the flattening progressed to epiphyseal necrosis and coxa magna. In one patient the hands and feet showed no enchondromatous involvement.
CONCLUSION: Metachondromatosis is a generalized bone dysplasia predominantly affecting the tubular bones and, to a lesser degree, flat bones and the vertebral column. Significant complications may include avascular necrosis of the femoral head and progressive deformity of the small joints due to expanding local exostoses. The typical involvement of the hands and the feet may not always be seen.

Entities:  

Mesh:

Year:  1995        PMID: 7538882

Source DB:  PubMed          Journal:  Can Assoc Radiol J        ISSN: 0846-5371            Impact factor:   2.248


  4 in total

1.  EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis.

Authors:  Neil C Vining; Stephen Done; Ian A Glass; Shawn E Parnell; Darci L Sternen; Kathleen A Leppig; Vincent S Mosca; Michael J Goldberg
Journal:  Skeletal Radiol       Date:  2011-09-04       Impact factor: 2.199

2.  Metachondromatosis: more than just multiple osteochondromas.

Authors:  Thomas J Fisher; Nicole Williams; Lloyd Morris; Peter J Cundy
Journal:  J Child Orthop       Date:  2013-09-21       Impact factor: 1.548

3.  Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

Authors:  Margot E Bowen; Eric D Boyden; Ingrid A Holm; Belinda Campos-Xavier; Luisa Bonafé; Andrea Superti-Furga; Shiro Ikegawa; Valerie Cormier-Daire; Judith V Bovée; Twinkal C Pansuriya; Sérgio B de Sousa; Ravi Savarirayan; Elena Andreucci; Miikka Vikkula; Livia Garavelli; Caroline Pottinger; Toshihiko Ogino; Akinori Sakai; Bianca M Regazzoni; Wim Wuyts; Luca Sangiorgi; Elena Pedrini; Mei Zhu; Harry P Kozakewich; James R Kasser; Jon G Seidman; Kyle C Kurek; Matthew L Warman
Journal:  PLoS Genet       Date:  2011-04-14       Impact factor: 5.917

4.  From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis.

Authors:  Wentian Yang; Benjamin G Neel
Journal:  Rare Dis       Date:  2013-10-02
  4 in total

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