multiple epiphyseal dysplasia
Introduction
Introduction to multiple epiphyseal dysplasia Multiple bone dysplasia, muffipleepiphysealdysplaais, also known as Fairbank disease or multiple skeletal dysplasia (dysostosisepiphysealismultiplex) is a rare developmental defect of hereditary cartilage characterized by abnormal ossification of many epiphyses and abnormal growth of patients. The fingers are short and short. In 1935, Fairbank first described the disease, with hereditary and family history, and men were more common than women. The age of onset is young children and adolescents. It is more common in the hip, shoulder and ankle, followed by the knee, wrist and elbow joints. Due to the presence of multiple irregular bone centers, the callus is enlarged and sometimes extended to the backbone. Later, the ossification center is irregularly fused, resulting in uneven joint surface, leading to early osteoarthritis. basic knowledge The proportion of sickness: 0.01%-0.05% Susceptible people: no specific people Mode of infection: non-infectious Complications: osteoarthritis
Cause
Causes of multiple epiphyseal dysplasia
The cause of this disease is unknown, and it is a rare hereditary dysplasia.
The pathological changes of the disease include the ossification center of the developing (bone) tendon, which is irregular in the split osteophyte, and the articular cartilage is initially normal, but the patient is supported by the underlying bone in the course of the disease. It is slack, so it becomes deformed, and the deformity of the joint is permanent. In the early stage, it shows the degenerative changes of adults and osteoarthritis. It can not be diagnosed until the late childhood. The child complains of joint stiffness, pain, and phlegm. Duck step (state), such a child is short, short and short, usually elbow, knee flexion contracture, but intelligence is not affected.
Prevention
Prevention of multiple epiphyseal dysplasia
[prognosis]
Multiple epiphyseal dysplasia At normal healing, the density of the epiphysis returns to normal, but irregular forms often remain in large parts or small parts, leading to early osteoarthritis in adults.
prevention
The disease is a congenital genetic disease, so there is currently no effective preventive measure.
Complication
Multiple epiphyseal dysplasia complications Complications osteoarthritis
The complications of this disease are mainly caused by multiple and symmetrical malformations of the ankle joint, such as hip varus and knee, valgus deformity, and secondary osteoarthritis, joint pain and joint stiffness.
Symptom
Multiple epiphyseal dysplasia Symptoms Common symptoms Joint relaxation Swing gait Hand shortening Knee pain Knee varus Hip joint pain Posterior spine
Mainly manifested as hip joint, knee pain, limited mobility, difficulty walking, swinging gait, limited shoulder movement, often thick bone, a few patients with joint flexion deformity or joint relaxation, short hands, fingers Thickening, short stature, because the disease has a greater impact on the long bones of the limbs than the spine, it is characterized by a certain degree of short-legged dwarfs, in addition to knee varus, valgus, unequal length of both lower limbs and kyphosis Wait.
Examine
Examination of multiple epiphyseal dysplasia
The auxiliary examination method for this disease is mainly X-ray examination:
X-ray findings: the symmetry osteophytes ossification center appears late, develops slowly, and the time delay of fusion with the backbone, characterized by irregular ossification, abnormal density of the ossification center, often spotted or mulberry-like, many A small, scattered ossification center that surrounds the large ossification center, but not as many as the skeletal epiphyseal dysplasia. These multiple ossification centers make the bone end larger, and the lower end of the humerus is from the inward direction. The external side is tilted, the depth is reduced, the tibia is long, the talus shape is changed to adapt to the tibial bone deformation (50%), the long bone is shorter than normal, the skull and teeth are normal, and can be divided into two types:
1Ri ing type (soft type), with multiple epiphyseal dysplasia, flattened bone, and minor bone invasion in the hand;
2Fairbank type (heavy), small callus, irregular carpal bone delayed ossification, metacarpal and phalanx changes.
Diagnosis
Diagnosis and diagnosis of multiple epiphyseal dysplasia
diagnosis
The diagnosis of this disease mainly depends on the X-ray.
X-ray findings: the symmetry osteophytes ossification center appears late, develops slowly, and the time delay of fusion with the backbone, characterized by irregular ossification, abnormal density of the ossification center, often spotted or mulberry-like, many A small, scattered ossification center that surrounds the large ossification center, but not as many as the skeletal epiphyseal dysplasia. These multiple ossification centers make the bone end larger, and the lower end of the humerus is from the inward direction. The external side is tilted, the depth is reduced, the tibia is long, the talus shape is changed to adapt to the tibial bone deformation (50%), the long bone is shorter than normal, the skull and teeth are normal, and can be divided into two types:
1Ri ing type (soft type), with multiple epiphyseal dysplasia, flattened bone, and minor bone invasion in the hand;
2Fairbank type (heavy), small callus, irregular carpal bone delayed ossification, metacarpal and phalanx changes.
Differential diagnosis
1, hypothyroidism (cretinism), osteophyte changes similar, but the patient's skin is dry, mental development is delayed, bone age is significantly delayed, the vertebral body in the thoracolumbar segment, can have a special performance, hook shape, the patient takes the thyroid Symptoms will turn after the symptoms.
2, pointy osteophytes hypoplasia, the entire epiphysis appears as a number of scattered centers, more obvious than this disease, talus can become scattered spots, congenital cataract (50%).
3, Morquio-Brailford disease and spinal epiphyseal dysplasia (spondyloepiphyseal dysplasia) and bilateral flat hips.
4, childhood Kashin-Beck disease: the identification of this disease and childhood Kashin-Beck disease mainly rely on X-ray diagnosis, bone and joint changes in children with Kashin-Beck disease and the disease whether it is clinical symptoms, signs, or X-ray performance, there are many Similarity and similarity, but the early calcification of the Kaschin-Beck disease in children is one of the characteristics of broadening or metaphyseal hardening. However, there is no obvious hardening in the early calcification zone or metaphysis of this disease.
