Skip to main content

Advertisement

SpringerLink
Log in

Scoliosis in patients with multiple hereditary exostoses

  • Original Article
  • Published:
European Spine Journal Aims and scope Submit manuscript

Abstract

Purpose

To investigate the prevalence of and to identify independent predictors associated with scoliosis in patients with multiple hereditary exostoses (MHE).

Methods

Fifty patients with MHE were clinically examined, and the diagnosis of scoliosis was made based on radiographs. To classify disease severity, three classes based on the presence of deformities and functional limitations were defined. Significant independent predictors of scoliosis in MHE were statistically analyzed.

Results

Scoliosis was present in 36 patients (MHE-scoliosis) (72 %). In the MHE-scoliosis group, the mean primary curve was 15.3° ± 5.7° (range 10°–34°) and the mean minor curve was 10.6° ± 7° (range 6°–32°). Left curve was predominant (72 %), and the apex was located in the thoracolumbar or lumbar spine in 64 % of patients. Univariable and multivariable analyses confirmed that MHE severity was a significant predictor of moderate scoliosis (≥20°).

Conclusions

Our study confirmed that scoliosis is a common feature of MHE and disease severity is a predictor of moderate scoliosis (≥20°).

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

References

  1. Matsumoto K, Irie F, Mackem S, Yamaguchi Y (2010) A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses. Proc Natl Acad Sci USA 107:10932–10937

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  2. Jäger M, Westhoff B, Portier S, Leube B, Hardt K, Royer-Pokora B, Gossheger G, Krauspe R (2007) Clinical outcome and genotype in patients with hereditary multipleexostoses. J Orthop Res 25:1541–1551

    Article  PubMed  Google Scholar 

  3. Francannet C et al (2001) Genotype-phenotype correlation in hereditary multiple exostoses. J Med Genet 38:430–434

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  4. McCormick C, Duncan G, Goutsos KT, Tufaro F (2000) The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci USA 97:668–673

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  5. Benoist-Lasselin C, de Margerie E, Gibbs L et al (2006) Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patients. Bone 39:17–26

    Article  CAS  PubMed  Google Scholar 

  6. Fogel GR, McElfresh EC, Peterson HA, Wicklund PT (1984) Management of deformities of the forearm in multiple hereditary osteochondromas. J Bone Jt Surg Am 66:670–680

    CAS  Google Scholar 

  7. Schmale GA, Conrad EU 3rd, Raskind WH (1994) The natural history of hereditary multiple exostoses. J Bone Jt Surg Am 76:986–992

    CAS  Google Scholar 

  8. Wicklund CL, Pauli RM, Johnston D, Hecht JT (1995) Natural history study of hereditary multiple exostoses. Am J Med Genet 55:43–46

    Article  CAS  PubMed  Google Scholar 

  9. Cates HE, Burgess RC (1991) Incidence of brachydactyly and hand exostosis in hereditary multiple exostosis. J Hand Surg Am 16:127–132

    Article  CAS  PubMed  Google Scholar 

  10. Matsumoto Y, Matsumoto K, Irie F, Fukushi J, Stallcup WB, Yamaguchi Y (2010) Conditional ablation of the heparan sulfate-synthesizing enzyme Ext1 leads to dysregulation of bone morphogenic protein signaling and severe skeletal defects. J Biol Chem 285:19227–19234

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  11. Shu C, Smith SS, Little CB, Melrose J (2013) Comparative immunolocalisation of perlecan, heparan sulphate, fibroblast growth factor-18, and fibroblast growth factor receptor-3 and their prospective roles in chondrogenic and osteogenic development of the human foetal spine. Eur Spine J 22:1774–1784

    Article  PubMed Central  PubMed  Google Scholar 

  12. Felix NA, Mazur JM, Loveless EA (2000) Acetabular dysplasia associated with hereditary multiple exostoses. A case report. J Bone Jt Surg Br 82:555–557

    Article  CAS  Google Scholar 

  13. Mordenti M, Ferrari E, Pedrini E, Fabbri N, Campanacci L, Muselli M, Sangiorgi L (2013) Validation of a new multiple osteochondromas classification through Switching Neural Networks. Am J Med Genet A 161A:556–560

    Article  PubMed  Google Scholar 

  14. Morrissy RT, Goldsmith GS, Hall EC, Kehl D, Cowie GH (1990) Measurement of Cobb angle on radiographs of patients who have scoliosis. Evaluation of intrinsic error. J Bone Jt Surg Am 72:320–327

    CAS  Google Scholar 

  15. King HA, Moe JH, Bradford DS et al (1983) The selection of fusion levels in thoracic idiopathic scoliosis. J Bone Jt Surg Am 65:1302–1313

    CAS  Google Scholar 

  16. Nash CL Jr, Moe JH (1969) A study of vertebral rotation. J Bone Jt Surg Am 51:223–229

    Google Scholar 

  17. Chen S, Zhao L, Roffey DM, Phan P, Wai EK (2014) Association of rs11190870 near LBX1 with adolescent idiopathic scoliosis in East Asians: a systematic review and meta-analysis. Spine J 14:2968–2975

    Article  PubMed  Google Scholar 

  18. Settle SH Jr, Rountree RB, Sinha A, Thacker A, Higgins K, Kingsley DM (2003) Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes. Dev Biol 254:116–130

    Article  CAS  PubMed  Google Scholar 

  19. Deng C, Wynshaw-Boris A, Zhou F, Kuo A, Leder P (1996) Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 84:911–921

    Article  CAS  PubMed  Google Scholar 

  20. Matsuo I, Kimura-Yoshida C (2013) Extracellular modulation of Fibroblast Growth Factor signaling through heparan sulfate proteoglycans in mammalian development. Curr Opin Genet Dev 23:399–407

    Article  CAS  PubMed  Google Scholar 

  21. Anower-E-Khuda MF, Matsumoto K, Habuchi H et al (2013) Glycosaminoglycans in the blood of hereditary multiple exostoses patients: half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application. Glycobiology 23:865–876

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

This work was supported by a Grant-in-Aid for Scientific Research from the Japan Society for the Promotion of Science (#23592192).

Conflict of interest

None.

Author information

Authors and Affiliations

  1. Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan

    Yoshihiro Matsumoto, Katsumi Harimaya, Seiji Okada & Yukihide Iwamoto

  2. Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan

    Kazu Matsumoto

  3. Department of Orthopaedic Surgery, Kyushu University Beppu Hospital, Beppu, Japan

    Toshio Doi

Authors
  1. Yoshihiro Matsumoto
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Kazu Matsumoto
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Katsumi Harimaya
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Seiji Okada
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Toshio Doi
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Yukihide Iwamoto
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Yoshihiro Matsumoto.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Matsumoto, Y., Matsumoto, K., Harimaya, K. et al. Scoliosis in patients with multiple hereditary exostoses. Eur Spine J 24, 1568–1573 (2015). https://doi.org/10.1007/s00586-015-3883-4

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00586-015-3883-4

Keywords

Search

Navigation