Skip to main content
SpringerLink
Log in

Multiple hereditäre Exostosenkrankheit

  • Living reference work entry
  • First Online:
Orthopädie und Unfallchirurgie

Part of the book series: Springer Reference Medizin ((SRM))

  • 34 Accesses

Zusammenfassung

Bei der multiplen hereditären Exostosenkrankheit handelt es sich um eine autosomal dominant vererbte Erkrankung, bei der zahlreiche Osteochondrome auftreten. Des Weiteren finden sich Wachstumsstörungen, die einerseits zu einem Minderwuchs führen, und andererseits – bei unterschiedlicher Wachstumsgeschwindigkeit im Bereich der paarig angelegten Knochen – zu Achsabweichungen. Typischerweise manifestiert sich die Erkrankung im Kleinkindalter. Am häufigsten sind die Exostosen im Bereich der während des Wachstums besonders aktiven Fugen lokalisiert – also im Bereich der unteren Extremität knienah und an der oberen Extremität vor allem am proximalen Humerus und am distalen Unterarm. Probleme entstehen durch mechanische Reizung und aufgrund von Fehlwachstum. Therapeutisch werden symptomatische Exostosen reseziert und Achsabweichungen korrigiert. Im Erwachsenenalter besonders zu beachten ist das Risiko der malignen Entartung bei ca. 4 % der Patienten. Betroffen sind insbesondere Exostosen im Bereich des Rumpfes. Aus diesem Grunde sollte in jedem Fall bei Wachstumsabschluss ein MRT des Beckens erfolgen, das als Referenz für weitere Untersuchungen herangezogen werden kann. Patienten sind entsprechend aufzuklären und für die Problematik zu sensibilisieren.

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

Access this chapter

Log in via an institution

Institutional subscriptions

Similar content being viewed by others

Literatur

  • Akita S, Murase T, Yonenobu K, Shimada K, Masada K, Yoshikawa H (2007) Long-term results of surgery for forearm deformities in patients with multiple cartilaginous exostoses. J Bone Joint Surg Am 89:1993–1999

    Google Scholar 

  • Alvarez C, Tredwell S, De Vera M, Hayden M (2006) The genotype-phenotype correlation of hereditary multiple exostoses. Clin Genet 70:122–130

    Article  CAS  PubMed  Google Scholar 

  • Bader B, Grill F (2000) Ulnar lengthening in osteochondroma (multiple cartilagenous exostoses) of the forearm. Handchir Mikrochir Plast Chir 32:321–327

    Google Scholar 

  • Beltrami G, Ristori G, Scoccianti G, Tamburini A, Capanna R (2016) Hereditary multiple exostoses: a review of clinical appearance and metabolic pattern. Clin Cases Miner Bone Metab 13:110–118

    PubMed  PubMed Central  Google Scholar 

  • Chhina H, Davis JC, Alvarez CM (2012) Health-related quality of life in people with hereditary multiple exostoses. J Pediatr Orthop 32:210–214

    Article  PubMed  Google Scholar 

  • Chin KR, Kharrazi FD, Miller BS, Mankin HJ, Gebhardt MC (2000) Osteochondromas of the distal aspect of the tibia or fibula. Natural history and treatment. J Bone Joint Surg 82:1269–1278

    Article  CAS  PubMed  Google Scholar 

  • D’Ambrosi R, Barbato A, Caldarini C, Biancardi E, Facchini RM (2016) Gradual ulnar lengthening in children with multiple exostoses and radial head dislocation: results at skeletal maturity. J Child Orthop 10:127–133

    Article  PubMed  PubMed Central  Google Scholar 

  • D’Ambrosi R, Ragone V, Caldarini C, Serra N, Usuelli FG, Facchini RM (2017) The impact of hereditary multiple exostoses on quality of life, satisfaction, global health status and pain. Arch Orthop Trauma Surg 137:209–215

    Article  PubMed  Google Scholar 

  • Delling G, Jobke B, Burisch S, Werner M (2005) Knorpel-bildende Tumore. Orthopäde 34:1267–1281

    Article  CAS  PubMed  Google Scholar 

  • Driscoll M, Linton J, Sullivan E, Scott A (2013) Correction and recurrence of ankle valgus in skeletally immature patients with multiple hereditary exostoses. Foot Ankle Int 34:1267–1273

    Article  PubMed  Google Scholar 

  • Ducque Orozco MP, Abousamra O, Rogers KJ, Thacker MM (2018a) Magnetic resonance imaging in symptomatic children with hereditary multiple exostoses of the hip. J Pediatr Orthop 38:116–121

    Article  Google Scholar 

  • Ducque Orozco MP, Abousamra O, Rogers KJ, Thacker MM (2018b) Radiographic analysis of the pediatric hip patients with hereditary multiple exostoses. J Pediatr Orthop 38:1305–1311

    Google Scholar 

  • El-Sobky TA, Samir S, Atiyya AN, Mahmoud S, Aly AS, Soliman R (2018) Current paediatric orthopaedic practice in hereditary multiple osteochondromas of the forearm: a systematic review. SICOT-J 4:10

    Article  PubMed  PubMed Central  Google Scholar 

  • Ettl V, Wild A, Thorey F, Kirschner S, Krauspe R, Raab P (2005) Deformitätenkorrektur am Unterarm bei Kindern mit multipler kartilaginärer Exostosenkrankheit. Z Orthop 143:106–111

    Article  CAS  PubMed  Google Scholar 

  • Fei L, Ngoh C, Porter DE (2018) Chondrosarcoma transformation in hereditary multiple exostoses: a systematic review and clinical and cost-effectiveness of a proposed screening model. J Bone Oncol 13:114–122

    Article  PubMed  PubMed Central  Google Scholar 

  • Fogel GR, McElfresh EC, Peterson HA, Wicklund PT (1984) Management of deformities of the forearm in multiple hereditary osteochondromas. J Bone Joint Surg 38:430–434

    Google Scholar 

  • Francannet C, Cohen-Tanugi A, Le Merrer M, Munnich A, Bonaventure J, Legeai-Mallet L (2001) Genotype-phenotype correlation in hereditary multiple exostoses. J Med Genet 38:430–434

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Goud AL, de Lange J, Scholtes VA, Bulstra SK, Ham SJ (2012) Pain, physical and social functioning, and quality of life in individuals with multiple hereditary exostoses in The Netherlands: a national cohort study. J Bone Joint Surg 94A:1013–1020

    Article  Google Scholar 

  • Ham J, Flipsen M, Koolen M, van der Zwan A, Mader K (2016) Multiple osteochondromas (MO) in the forearm: a 12-year single-centre experience. Strateg Traum Limb Reconstr 11:169–175

    Article  Google Scholar 

  • Ip D, Li YH, Chow W, Leong JC (2003) Reconstruction of forearm deformities in multiple cartilaginous exostoses. J Pediatr Orthop B 12:17–21

    Google Scholar 

  • Ishikawa J, Kato H, Fujioka F, Iwasaki N, Suenaga N, Minami A (2007) Tumor location affects the results of simple excision for multiple osteochondromas in the forearm. J Bone Joint Surg 89A:1238–1247

    Article  Google Scholar 

  • Jackson TJ, Shah AS, Arkader A (2019) Is routine spine MRI necessary in skeletally immature patients with MHE? Identifying patients at risk for spinal osteochondromas. J Pediatr Orthop 39:e147–e152

    Article  PubMed  Google Scholar 

  • 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 multiple exostoses. J Orthop Res 25:1541–1551

    Article  PubMed  Google Scholar 

  • Jo AR, Jung ST, Kim MS, Oh CS, Min BJ (2017) An evaluation of forearm deformities in hereditary multiple exostoses: factors associated with radial head dislocation and comprehensive classification. J Hand Surg Am 42:292

    Article  Google Scholar 

  • Jones KB (2011) Glycobiology and the growth plate: current concepts in multiple hereditary exostoses. J Pediatr Orthop 31:577–586

    Article  PubMed  PubMed Central  Google Scholar 

  • Jones KB, Datar M, Ravichandran S, Jin H, Jurrus E, Whitaker R, Capecchi MR (2013) Toward an understanding of the short bone phenotype associated with multiple osteochondromas. J Orthop Res 31:651–657

    Article  PubMed  Google Scholar 

  • Kang S, Kim JY, Park SS (2017) Outcomes of hemiepiphyseal stapling for genu valgum deformities in patients with multiple hereditary exostoses: a comparative stuy of patients with deformities of idiopathic cause. J Pediatr Orthop 37:265–271

    Article  PubMed  Google Scholar 

  • Karbowski A, Eckardt A, Rompe JD (1995) Multiple kartilaginäre Exostosen. Orthopäde 24:37–43

    CAS  PubMed  Google Scholar 

  • Koziel L, Kunath M, Kelly OG, Vortkamp A (2004) Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification. Dev Cell 6:801–813

    Article  CAS  PubMed  Google Scholar 

  • Litzelmann E, Mazda K, Jehanno P, Brasher C, Pennecot GF, Ilharreborde B (2012) Forearm deformities in hereditary multiple exostosis: clinical and functional results at maturity. J Pediatr Orthop 32:835–841

    Article  PubMed  Google Scholar 

  • Masada K, Tsuyuguchi Y, Kawai H, Kawabata H, Noguchi K, Ono K (1989) Operations for forearm deformity caused by multiple osteochondromas. J Bone Joint Surg 71B:24–29

    Article  Google Scholar 

  • Matsubara H, Tsuchiya H, Sakurakichi K, Yamashiro T, Watanabe K, Tomita K (2006) Correction and lengthening for deformities of the forearm in multiple cartilaginous exostoses. J Orthop Sci 11:459–466

    Article  PubMed  Google Scholar 

  • McFarlane J, Knight T, Sinha A, Cole T, Kiely N, Freeman R (2016) Exostoses, enchondromatosis and metachondromatosis; diagnosis and management. Acta Orthop Belg 82:102–105

    PubMed  Google Scholar 

  • 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 Med Genet 161A:556–560

    Article  Google Scholar 

  • Noonan KJ, Levenda A, Snead J, Feinberg JR, Levenda A, Mih A (2002a) Evaluation of the forearm in untreated adult subjects with multiple hereditary osteochondromatosis. J Bone Joint Surg 84A:397–403

    Article  Google Scholar 

  • Noonan KJ, Feinberg JR, Levenda A, Snead J, Wurtz LD (2002b) Natural history of multiple hereditary osteochondromatosis of the lower extremity and ankle. J Pediatr Orthop 22:120–124

    Article  PubMed  Google Scholar 

  • Pacifici M (2018) The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses. Matrix Biol 71–72:28–39

    Article  PubMed  Google Scholar 

  • Pedrini E, Jennes I, Tremosini M, Milanesi A, Mordenti M, Parra A, Sgariglia F, Zuntini M, Campanacci L, Fabbri N, Pignotti E, Wuyts W, Sangiorgi L (2011) Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of „protective“ and „risk“ factors. J Bone Joint Surg Am 93:2294–2302

    Article  PubMed  Google Scholar 

  • Peterson HA (1994) Deformities and problems of the forearm in children with multiple hereditary osteochondromata. J Pediatr Orthop 14:92–100

    Article  CAS  PubMed  Google Scholar 

  • Piombo V, Jochmann K, Hoffmann D, Wuelling M, Vortkamp A (2018) Signaling systems affecting the severity of multiple osteochondromas. Bone 111:71–81

    Article  CAS  PubMed  Google Scholar 

  • Porter DE, Emerton ME, Villanueva-Lopez F, Simpson AH (2000) Clinical and radiographic analysis of osteochondromas and growth disturbance in hereditary multiple exostoses. J Pediatr Orthop 20:246–250

    Article  CAS  PubMed  Google Scholar 

  • Porter DE, Lonie L, Fraser M, Dobson-Stone C, Porter JR, Monaco AP, Simpson AH (2004) Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study. J Bone Joint Surg 86B:1041–1046

    Article  Google Scholar 

  • Pritchett JW (1986) Lengthening the ulna in patients with hereditary multiple exostoses. J Bone Joint Surg 68Br:561–565

    Article  Google Scholar 

  • Raherinantenaina F, Rakoto-ratsimba HN, Rajaonanahary TMA (2016) Management of extremity arterial pseudoaneurysms associated with osteochondromas. Vascular 24:628–637

    Google Scholar 

  • Rupprecht M, Spiro AS, Rueger JM, Stücker R (2011) Temporary screw epiphyseodesis of the distal tibia: a therapeutic option for ankle valgus in patients with hereditary multiple exostosis

    Google Scholar 

  • Ryckx A, Somers JF, Allaert L (2013) Hereditary multiple exostosis. Acta Orthop Belg 79:597–607

    PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  • Sgariglia F, Candela ME, Huegel J, Jacenko O, Koyama E, Yamaguchi Y, Pacifici M, Enomoto-Iwamoto M (2013) Epiphyseal abnormalities, trabecular bone loss and articular chondrocyte hypertrophy develop in the long bones of postnatal Ext1-deficient mice. Bone 57:220–231

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Shapiro F, Simon S, Glimcher MJ (1979) Hereditary multiple exostoses: anthropometric, roentgenographic and clinical aspects. J Bone Joint Surg Am 61:815–824

    Article  CAS  PubMed  Google Scholar 

  • Staal MH, Goud AL, van der Woude HJ, Witlox MA, Ham SJ, Robben SGF, Dremmen MHG, van Rhijn LW (2015) Skeletal maturity of children with multiple osteochondromas: is diminished stature due to a systemic influence? J Child Orthop 9:397–402

    Article  PubMed  PubMed Central  Google Scholar 

  • Stanton RP, Hansen MO (1996) Function of the upper extremities in hereditary multiple exostoses. J Bone Joint Surg 78A:568–573

    Article  Google Scholar 

  • Taniguchi K (1995) A practical classification system for multiple cartilaginous exostosis in children. J Pediatr Orthop 15:585–591

    Article  CAS  PubMed  Google Scholar 

  • Van Oosterbos M, van der Zwan AL, van der Woude HJ, Ham SJ (2016) Correction of ankle valgus by hemiepiphysiodesis using the tension band principle in patients with multiple hereditary exostosis. J Child Orthop 10:267–273

    Article  PubMed  PubMed Central  Google Scholar 

  • Vasseur M, Fabre O (2000) Vascular complications of osteochondroma. J Vasc Surg 31:532–538

    Article  CAS  PubMed  Google Scholar 

  • Vogt B, Tretow HL, Daniilidis K, Wacker S, Buller TC, Henrichs MP, Roedl RW, Schiedel F (2011) Reconstruction of forearm deformity by distraction osteogenesis in children with relative shortening of the ulna due to multiple cartilaginous exostosis. J Pediatr Orthop 31:393–401

    Article  PubMed  Google Scholar 

  • Waters PM, Van Heest AE, Emans J (1997) Acute forearm lengthenings. J Pediatr Orthop 17:444–449

    Article  CAS  PubMed  Google Scholar 

  • Watts AC, Ballantyne JA, Fraser M, Simpson AH, Porter DE (2007) The association between ulnar length and forearm movement in patients with multiple osteochondromas. J Hand Surg 32:667–673

    Article  Google Scholar 

  • Westhoff B, Stefanovska K, Krauspe R (2014) Multiple kartilaginäre Exostosenkrankheit. Orthopäde 43:725–732

    Article  CAS  PubMed  Google Scholar 

  • 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 

  • Woodside JC, Ganey T, Gaston RG (2015) Multiple osteochondroma of the hand: initial and long-term follow-up study. Hand 10:616–620

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Klinik für Orthopädie und Unfallchirurgie, Universitätsklinikum, Düsseldorf, Deutschland

    Bettina Westhoff

Authors
  1. Bettina Westhoff
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Bettina Westhoff .

Editor information

Editors and Affiliations

  1. Klinik für Orthopädie, Klinikum Osnabrück GmbH Klinik für Orthopädie, Osnabrück, Niedersachsen, Deutschland

    Martin Engelhardt

  2. Unfallchirurgie, Universitätsklinikum Münster Unfallchirurgie, Münster, Nordrhein-Westfalen, Deutschland

    Michael Raschke

Section Editor information

  1. Klinik für Orthopädie, Klinikum Stuttgart – Olgahospital, Stuttgart, Deutschland

    Thomas Wirth

Rights and permissions

Reprints and permissions

Copyright information

© 2022 Springer-Verlag GmbH Deutschland, ein Teil von Springer Nature

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Westhoff, B. (2022). Multiple hereditäre Exostosenkrankheit. In: Engelhardt, M., Raschke, M. (eds) Orthopädie und Unfallchirurgie. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-54673-0_152-1

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-54673-0_152-1

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-54673-0

  • Online ISBN: 978-3-642-54673-0

  • eBook Packages: Springer Referenz Medizin

Publish with us

Policies and ethics

Search

Navigation