Disease definition. Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips. se diagnosticó una displasia epifisaria con falanges en forma de ángel. A raíz de este . la displasia epifisaria múltiple, enfermedad que afecta el crecimiento y. displasias epifisarias múltiples is the plural of displasia epifisaria múltiple Translate “displasia epifisaria múltiple” to English: multiple.
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Dysplasia epiphysealis hemimelica Trevor-Fairbank disease: Epiphysis; Osteochondrodysplasia; Dysplasia epiphysealis hemimelica; Trevor disease. Dysplasia epiphysealis hemimelica is a rare benign disease incidence 1: Generally, the age of onset is between two and 14 years.
The characteristic imaging findings are sufficient for the diagnosis.
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Surgical excision of the lesion is only indicated in cases where a functional limitation is present. It is an abnormal and asymmetrical proliferation of cartilage with osteochondral ossification which ceases once the growth process is completed 3.
It is a rare disease, with a reported incidence of 1: However, it is known that such condition is connected with the group of osteochondromatoses 1,2. Because of such disease rarity, there is a scarcity of cases described in the literature, hence the authors’ objective of presenting the case of a three-year-old boy with DEH in his right knee.
Along the previous two months the patient presented abnormality in gait, more significantly when running. At physical examination, a moderate swelling and local warmth were observed, with pain and flexion peifisaria.
At radiography, irregularities on the articular surfaces with exuberant calcifications were observed in the displaia space and adjacent to the distal femoral and proximal tibial epiphyses Figure 1. Anteroposterior radiograph demonstrating irregularities on articular surfaces with calcifications adjacent to the distal femoral large arrow and proximal tibial small arrow epiphyses.
Lateral radiograph of knee identifying exuberant calcifications in the articular space arrow. Axial MRI proton-density-weighted fat sat image demonstrating involvement of the distal femur by the disease, with irregularities, dysplastic alterations small arrowcalcifications and intra-articular ossification large arrow. Sagittal MRI proton-density-weighted fat sat image showing the presence of calcifications and intrasynovial ossification arrow.
Soft tissue preservation is also observed. Computed muktiple CT revealed the presence of moderate joint effusion with irregularity in the contours of the femoral condyle and tibial plateau in the medial compartment, and multiple, irregular calcifications multple the joint, particularly on the posterior aspect of epifisariw femur.
Magnetic resonance imaging MRI demonstrated irregularities and dysplastic alterations on articular surfaces of the medial femoral condyle and internal tibial plateau, with calcifications and adjacent intrasynovial ossifications Figure 2.
Surgical excision of the lesion was performed because of the significant functional limitation and pain. Anatomopathological analysis revealed osteochondroma. Generally with unilateral involvement, the lesion originates multilpe tone of the epiphyseal aspects, preferentially affecting the lower limbs, in decreasing order of occurrence: Initially the clinical presentation corresponds to local painless swelling determined by the cartilage overgrowth, which may become painful and generate deformities, limited range of motion and limb length discrepancy 1,6.
According to Peduto et al.
Histologically, the lesion characteristics are identical to those of osteochondroma 2. According to Carlson et al.
Such displaxia describe the following differential diagnoses: Radiography shows one or more irregular masses with focal ossification adjacent to the border of one of the halves of the epiphysis with overgrowthwith irregular enlargement of epiphyseal centers and adjacent metaphysis, like in the present case, where the lesion was adjacent to the distal femoral and proximal tibial epiphyses.
Such mass may be located on the underlying bone in cases where bone maturation is present 1,2,6. CT can more accurately define the anatomical relationship between the mass and the bone, as well as the continuity of the bone cortical and bone marrow, but it is inferior to MRI in the evaluation of changes in cartilage and soft tissues 1,2.
With MRI, one can better evaluate the epiphyseal osteochondral growth and its probable effects on adjacent structures, allowing a better definition of bone and cartilage structures at multiple planes, but scarce reports describing MRI findings of DEH are found in the literature 1,2,7.
MRI is useful at early phases of the disease, when a small mass with calcifications inside is observed, likewise in the present diaplasia 1,2.
Orphanet: Displasia epifisaria multipla tipo 4
At the T1-weighted sequence, the signal intensity is the same for both the healthy epiphyseal cartilage and the cartilage affected by disease, but the latter presents small spots of low intensity corresponding to calcifications. On the other hand, at T2-weighted sequences, the higher intensity is observed in the cartilaginous cap as compared with the osteocartilaginous junction 8.
As regards treatment, radiographic follow-up is performed to evaluate the lesion progression. In cases of pain, skeletal deformities or functional limitations, surgical excision is indicated 2. Follow-up is required to evaluate lesion recidivation after surgery 2,3. Finally, DEH is a rare disease characterized by asymmetrical epiphyseal overgrowth, whose diagnosis is made by means of radiography, supplemented by MRI which can better evaluate the osteochondral overgrowth as well as adjacent structures.
MR imaging of dysplasia epiphysealis hemimelica: Best cases of the AFIP: Dysplasia epiphysealis hemimelica or Trevor’s disease of proximal tibia mimicking loose body. J Clin Orthop Trauma. Bilateral dysplasia epiphysealis hemimelica of the talus associated with a lower leg intramuscular cartilaginous mass.
Dysplasia epiphysealis hemimelica Trevor’s disease: Variability of unilateral epiphyseal dysplasia dysplasia epiphysealis hemimelica. Dysplasia epiphysealis hemimelica of the distal ulna: Eur J Med Res. MRI findings of dysplasia epiphysealis hemimelica.
Accepted after revision August 20,