Background. Enchondromatosis is characterized by the presence of multiple benign cartilage lesions in bone. While Ollier disease is typified by multiple enchondromas, in Maffucci syndrome these are associated with hemangiomas. Studies evaluating the predictive value of clinical symptoms for development of secondary chondrosarcoma and prognosis are lacking. This multi-institute study evaluates the clinical characteristics of patients, to get better insight on behavior and prognosis of these diseases. Method.Aretrospectivestudywasconductedusingclinical dataof144Ollierand17Maffuccipatientsfrom13European centers and one national databank supplied by members of the European Musculoskeletal Oncology Society. Results. Patients had multiple enchondromas in the hands and feet only (group I, 18%), in long bones including scapula and pelvis only (group II, 39%), and in both small and long/flat bones (group III, 43%), respectively. The overall incidence of chondrosarcoma thus far is 40%. In group I, only 4 patients (15%) developed chondrosarcoma, in contrast to 27 patients (43%) in group II and 26 patients (46%) in group III, respectively. The risk of developing chondrosarcoma is increased when enchondromas are located in the pelvis (odds ratio, 3.8; p 0.00l). Conclusions. Overall incidence of development of chondrosarcoma is 40%, but may, due to age-dependency, increase when considered as a lifelong risk. Patients with

/pdf/incidence-predictive-factors-and-prognosis-of-chondrosarcoma-2nck3rv47i.pdf

Incidence, Predictive Factors, and Prognosis of Chondrosarcoma in Patients with Ollier Disease and Maffucci Syndrome: An International Multicenter Study of 161 Patients

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. Active hedgehog signaling is reported to be important for enchondroma development and PTH1R mutations have been identified in approximately 10% of Ollier patients. One can therefore speculate that the gene(s) causing the different enchondromatosis subtypes are involved in hedgehog/PTH1R growth plate signaling. 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.

Enchondromatosis: insights on the different subtypes.

Any lower limb discrepancy may be equalised by conservative means (insoles, prosthesis and orthosis). However, their long-term acceptance is low in regard to function, costs, expenditure and appearance. Timely epiphysiodesis is the best option in uniplanar deformities with adequate remaining growth and for patients whose predicted final body height is above the 50th percentile. However, many patients present late or with multi-planar deformities, which warrant more sophisticated operative approaches. The history of surgical bone lengthening comprises 100 exciting years of struggling, development and ongoing learning. The initial strategy of acute or rapid incremental distraction had lasted almost half a century until Ilizarov recognised the benefits of biological periosteum-preserving osteotomies and incremental lengthening at slow rates (1 mm/day) at a 4 × 0.25-mm daily rhythm, well appreciated as callotasis. In parallel, ring and wire constructs made complex three-dimensional axial, translational and rotational bone moulding possible. Taylor Spatial Frames—built on hexapod strut-linked platform technology as known from flight simulators—took limb correction to a more reliable, more precise and aesthetical level, all the more that the whole process became web-based. It represents state-of-the-art methodology and technology for complex, multi-plane deformities. Due to the significant risk of secondary malalignment, indications for lengthening by unilateral fixation have shrunken to moderate amounts of length disparity and uni- to bi-planar deformities in patients with still open physes. Mechanical or motorised, minimally invasively placed nails prevent muscle fixation and, therefore, ease rehabilitation, increase patient comfort and potentially shorten the overall time of sick leave and refrain from sports activities. Hence, they offer a valuable alternative for low-grade complexity situations. It remains to be proved if the significantly higher implant costs are compensated by lower treatment costs. Overall, limb lengthening, particularly in combination with multi-planar deformity correction, can still be an arduous endeavour. In any case, wise judgement of the patient’s deformity, medical and biological situation, psychosocial environment, selection of the appropriate method and hardware, as well as meticulous operating technique by an experienced surgeon are the cornerstones of successful outcomes.

/pdf/current-concepts-of-leg-lengthening-18flpujp83.pdf

Current concepts of leg lengthening.

Limb lengthening by callus distraction and external fixation has a high rate of complications. We describe our experience using an intramedullary nail (Fitbone) which contains a motorised and programmable sliding mechanism for limb lengthening and bone transport. Between 2001 and 2004 we lengthened 13 femora and 11 tibiae in ten patients (seven men and three women) with a mean age of 32 years (21 to 47) using this nail. The indications for operation were short stature in six patients and developmental or acquired disorders in the rest. The mean lengthening achieved was 40 mm (27 to 60). The mean length of stay in hospital was seven days (5 to 9). The mean healing index was 35 days/cm (18.8 to 70.9). There were no cases of implant-related infection or malunion.

The results of limb lengthening by callus distraction using an extending intramedullary nail (Fitbone) in non-traumatic disorders

Femoral lengthening using the Intramedullary Skeletal Kinetic Distractor is a new technique. However, with intramedullary distraction the surgeon has less control over the lengthening process. Therefore, 33 femora lengthened with this device were assessed to evaluate the effect of operative variables under the surgeon's control on the course of lengthening. The desired lengthening was achieved in 32 of 33 limbs. Problems encountered included difficulty in achieving length in eight femora (24%) and uncontrolled lengthening in seven (21%). Uncontrolled lengthening was more likely if the osteotomy was placed with less than 80 mm of the thick portion of the nail in the distal fragment (p = 0.052), and a failure to lengthen was more likely if there was over 125 mm in the distal fragment (p = 0.008). The latter problem was reduced with over-reaming by 2.5 mm to 3 mm. Previous intramedullary nailing also predisposed to uncontrolled lengthening (p = 0.042), and these patients required less reaming. Using the Intramedullary Skeletal Kinetic Distractor, good outcomes were obtained; problems were minimised by optimising the position of the osteotomy and the amount of over-reaming performed.

Femoral lengthening with the Intramedullary Skeletal Kinetic Distractor

Ollier's disease is characterised by severe deformity of the extremities and retarded growth because of multiple enchondromas. For correction of deformity, the Ilizarov method has been used although it has many complications. A 17-year-old boy with Ollier's disease had a limb-length discrepancy of 17.4 cm, with a valgus deformity of the right knee and recurvatum of the femur of 23 degrees . He had undergone three unsuccessful attempts to correct the deformities by using external fixators. We used a fully implantable, motorised, lengthening and correction nail (Fitbone) to achieve full correction of all the deformities without complications. We decided to carry out the procedure in three stages. First, we lengthened the femur by 3.6 cm and the tibia by 4 cm. We then exchanged the femoral nail for a longer implant and achieved a further 6 cm of length. This reduced the shortening to 3.8 cm. When the boy has finished secondary school we will adjust the remaining discrepancy.

The management of leg-length discrepancy in Ollier’s disease with a fully implantable lengthening nail

The gold standard for radiographic assessment and correction planning of lower limb deformities is the long standing radiograph (LSR). Additional computer tomography (CT) can measure exact length and torsion. For correct positioning in LSR the patella should be centered on the femoral condyles (knee forward position—KFP). The flexion extension axis of the knee (KFEA) is mainly defined by the shape of the femoral condyles represented by their dorsal tangent. In 30 CT scans the position of the patella and its relation to the dorsal tangent to the femoral condyles were retrospectively analyzed. With a custom-made positioning apparatus to control the leg rotation and load exactly for each limb separately we analyzed 38 CT scans. 20 digital LRS were retrospectively compared with the correlating CT-data. In CT scans with KFP the KFEA differed 11° from the frontal plane ( p p

Digital imaging in lower limb bone deformities—standards and new perspectives

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The management of leg-length discrepancy in Ollier’s disease with a fully implantable lengthening nail

Digital imaging in lower limb bone deformities—standards and new perspectives