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Enchondromatosis

Orpha number ORPHA296
Synonym(s) Dyschondroplasia
Ollier disease
Prevalence 1-9 / 100 000
Inheritance Not applicable
Age of onset Childhood
ICD-10
  • Q78.4
ICD-O -
OMIM
UMLS
  • C0014084
MeSH
  • D004687
MedDRA
  • 10014642
SNOMED CT
  • 268274005

Summary

Enchondromatosis (or according to the WHO terminology, Ollier disease) is defined by the presence of multiple enchondromas with an asymmetric distribution. The estimated prevalence of Ollier disease is 1/100,000. Enchondromas are common intraosseous, usually benign, cartilaginous tumors that develop in close proximity to growth plate cartilage. Clinical manifestations of Ollier disease often appear in the first decade of life. The cartilage lesions can be extremely variable (in terms of size, number, location, evolution of enchondromas, age of onset and of diagnosis, requirement for surgery). Clinical problems caused by enchondromas include skeletal deformities, limb-length discrepancy, and the potential risk for malignant change to chondrosarcoma. The condition in which multiple enchondromatosis is associated with soft tissue hemangiomas is known as Maffucci syndrome. Until now both Ollier disease and Maffucci syndrome have only occurred in isolated patients and are not familial conditions. It remains uncertain whether the disorder is caused by a single gene defect or by combinations of (germ-line and/or somatic) mutations. The diagnosis is based on clinical and conventional radiological evaluations. Histological analysis has a limited role and is mainly used if malignancy is suspected. There is no medical treatment for enchondromatosis. Surgery is indicated in case of complications (pathological fractures, growth defects, malignant transformation). The prognosis for Ollier disease is difficult to assess. As is generally the case, forms with an early onset appear more severe. Enchondromas in Ollier disease present a risk of malignant transformation of enchondromas into chondrosarcomas.

Expert reviewer(s)

  • Dr Harald JÜPPNER
  • Dr Caroline SILVE

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Detailed information

Summary information
Review article
  • EN (2006)
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