Exostoses, enchondromatosis and metachondromatosis, diagnosis and management

John Mcfarlane, Tim Knight, Anubha Sinha, Trevor Cole, Nigel Kiely, Rob Freeman

Abstract


We describe a 5 years old girl who presented to the multidisciplinary skeletal dysplasia clinic following excision of two bony lumps from her fingers. Based on clinical examination, radiolographs and histological results an initial diagnosis of hereditary multiple exostosis (HME) was made. Four years later she developed further lumps which had the radiological appearance of enchondromas. The appearance of both exostoses and enchondromas suggested a possible diagnosis of metachondromatosis. Genetic testing revealed a splice site mutation at the end of exon 11 on the PTPN11 gene, confirming the diagnosis of metachondromatosis. While both single or multiple exostoses and enchondromas occur relatively commonly on their own, the appearance of multiple exostoses and enchondromas together is rare and should raise the differential diagnosis of metachondromatosis. Making this diagnosis is important as the lesions in metachondromatosis may spontaneously resolve and therefore surgical intervention is often unnecessary. We discuss the diagnostic findings, genetic causes, treatment and prognosis of this rare condition of which less than thirty cases have previously been reported.


Keywords


Exostoses; enchondromatosis; metachondromatosis;dysplasia

References


Bovee JVMG. Multiple osteochondromas. Orphanet Journal of rare diseases

, 46, pp 34-56

Bovee JVMG and Reijnders C. Metachondromatosis.

Orphanet Journal of rare diseases 2011, 112, pp 65-96

Bowen Me et al. Loss-of-function mutations in PTPN11 Cause

Metachondromatosis, but Not Ollier disease or Maffucci Syndrome. PloS

Genetics. April 2011; Volume 7 Issue 4.

Garrison RC, Unni K, et al Chondrosarcoma arising in osteochondroma, Cancer May 1982 Vol 49, Issue 9, pages 1890–1897

Hennekam RC. Hereditary multiple exostoses. J Med Genet. 1991;28:262–6.

Kivioja A, Ervasti H, Kinnunen J, Kaitila I, Wolf M, Böhling T. Chondrosarcoma in

a family with multiple hereditary exostoses, J Bone Joint Surg Br 1982 (2): 261–6

Krooth RS, Macklin MT, Hislbish TF. Diaphysial aclasis (multiple exostoses) on

Guam. Am J Hum Genet. 1961;13:340–7

Solomon L. Chondrosarcoma in hereditary multiple exostosis. S African Med J

;48:671-6.

Twinkal C.P, Kroon H M, Bovee JVMG. Review Article

Enchondromatosis: insights on the different subtypes. Int J Clin Exp Pathol 2010;

(6):557-569.

Verdegaal SHM, Bovée JVMG, Pansuriya TC, Grimer RJ, Predictive factors and prognosis of central chondrosarcoma in patients with Ollier and Maffucci Syndrome; Report of 133 patients. Orthopaedic Proceedings July 2010 92-B: 440-441

Walid M, Troup EC, Cerebellar anaplastic astrocytoma in a teenager with Ollier Disease, Journal of Neuro-Oncology August 2008, Volume

, Issue 1, pp 59-62


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