This article has been cited by other articles in PMC. Ayear-old male patient, a product of a non-consanguineous marriage, presented to our outpatient clinic with a 5-month history of painless swelling of the fingers of both hands and a right-sided limp during the previous 2 months. The general physical examination was unremarkable except for swelling of the fingers. Routine lab investigations were normal. Radiographs showed radiolucent lesions of fingers, pelvis and lower end of the right femur, which were diagnosed as enchondromas.
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Email: ln. J Received May 31; Accepted Jun This article has been cited by other articles in PMC. Abstract Enchondromatosis is a rare, heterogeneous skeletal disorder in which patients have multiple enchondromas. Enchondromas are benign hyaline cartilage forming tumors in the medulla of metaphyseal bone. The disorder manifests itself early in childhood without any significant gender bias. Enchondromatosis encompasses several different subtypes of which Ollier disease and Maffucci syndrome are most common, while the other subtypes metachondromatosis, genochondromatosis, spondyloenchondrodysplasia, dysspondyloenchondromatosis and cheirospondyloenchondromatosis are extremely rare.
Most subtypes are non-hereditary, while some are autosomal dominant or recessive. The gene s causing the different enchondromatosis syndromes are largely unknown. They should be distinguished and adequately diagnosed, not only to guide therapeutic decisions and genetic counseling, but also with respect to research into their etiology.
For a longtime enchondromas have been considered a developmental disorder caused by the failure of normal endochondral bone formation. With the identification of genetic abnormalities in enchondromas however, they were being thought of as neoplasms.
Adequate distinction within future studies will shed light on whether these subtypes are different ends of a spectrum caused by a single gene, or that they represent truely different diseases. We therefore review the available clinical information for all enchondromatosis subtypes and discuss the little molecular data available hinting towards their cause. Keywords: Ollier disease, Maffucci syndrome, enchondroma, metachondromatosis, enchondromatosis, central chondrosarcoma Introduction Enchondromas are common, benign, and usually asymptomatic hyaline cartilage forming neoplasms in the metaphyses and diaphyses of the short and long tubular bones of the limbs, especially the hands and feet [ 1 , 2 ].
They usually occur as a single lesion solitary enchondroma which is most often found incidentally when radiographic studies are performed for other reasons. Occasionally patients present with multiple enchondromas causing severe deformity of the affected bones, generally defined as enchondromatosis [ 2 , 3 ]. The distribution of the enchondromas, and other accompanying symptoms as well as the mode of inheritance define the different subtypes of enchondromatosis Figure 1 , which mainly includes Ollier disease, Maffucci syndrome, metachondromatosis, genochondromatosis, spondyloenchondrodysplasia, cheirospondyloenchondromatosis and dysspondyloenchondromatosis.
These subtypes should be distinguished and adequately diagnosed, not only to guide therapeutic decision and genetic counseling, but also to enable future studies to shed light on whether these are different ends of a spectrum caused by a single gene, or that they represent true different diseases.
Enfermedad de Ollier
Imaging differential diagnosis Terminology Some authors make a distinction between Ollier disease and enchondromatosis on the basis of distribution. In the original description of Ollier disease, the enchondromas were predominantly confined to one side and limited to the limbs. As such, some authors prefer to use the term Ollier disease in cases where this distribution is present and use enchondromatosis or multiple enchondromatosis for cases where the distribution is more symmetric 5. Epidemiology Ollier disease is seen in both sexes without gender predilection and usually becomes apparent by early childhood 3,4,. The condition is non-hereditary and is thought to occur as a result of random and spontaneous mutations. Clinical presentation Clinical presentation is usually with deformity and pain present only during periods of rapid growth 3,4.
Multiple enchondromatosis (Ollier disease)
Email: ln. J Received May 31; Accepted Jun This article has been cited by other articles in PMC. Abstract Enchondromatosis is a rare, heterogeneous skeletal disorder in which patients have multiple enchondromas. Enchondromas are benign hyaline cartilage forming tumors in the medulla of metaphyseal bone. The disorder manifests itself early in childhood without any significant gender bias.