Abstract
Enchondromas are common intraosseous, usually benign cartilaginous tumors, that develop in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondromatosis also known as Ollier disease (WHO terminology). The estimated prevalence of Ollier disease is 1/100,000. Clinical manifestations often appear in the first decade of life. Ollier disease is characterized by an asymmetric distribution of cartilage lesions and these 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 not familial. 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 defect, 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.
Highlights
Enchondromas are common benign usually asymptomatic cartilage tumors, which develop in the metaphyses and may become incorporated into the diaphyses of long tubular bones, in close proximity to growth plate cartilage [1,2,3]
The condition in which multiple enchondromatosis is associated with soft tissue hemangiomas is known as Maffucci syndrome
It is important to emphasize the irregular distribution of the lesions, which can be localized to one limb, or limited to one half of the body; even limited largely to one side of the body, one or two enchondromas are frequently present on the other side, in particular in the hand bones
Summary
Enchondromas are common benign usually asymptomatic cartilage tumors, which develop in the metaphyses and may become incorporated into the diaphyses of long tubular bones, in close proximity to growth plate cartilage [1,2,3]. Enchondromatosis (OMIM 166000) or Ollier disease (World Health Organization terminology) [4] is defined by the presence multiple enchondromas and characterized by an asymmetric distribution of cartilage lesions that can be extremely variable (in terms of size, (page number not for citation purposes)
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