Epiphyseal punctate dysplasia

Introduction to epiphyseal dysplasia Osteophyte dysplasia, also known as Conradi's disease, congenital punctate dysplasia (chondrodystrophiacongenitapunletata) or dysplasiaepiphysialispunctata is caused by autosomal recessive genes with different penetrance The disease has a disproportionate short upper arm and thigh, short and thick fingers and toes, strong joints, short neck, flat nose, high upper jaw, arched. Some patients are accompanied by defects in congenital cataracts, osteophytes or the cardiovascular system. basic knowledge The proportion of sickness: 0.0001% - 0.0002% Susceptible people: no specific population Mode of infection: non-infectious Complications: pseudo-alopecia areata hip dislocation

Causes of epiphyseal dysplasia

Causes

It is a disease caused by autosomal recessive genes with different penetrance.

Osteophyte dysplasia prevention

1, reasonable diet and reasonable mix, diet considerations can not be a single partial eclipse. Have a good diet, don't be hungry and dysfunctional. You should quit smoking and alcohol.

2, to increase the intake of calcium, should eat high-calcium foods, such as more milk, eggs, soy products, vegetables and fruits, it is necessary to add calcium.

3, strengthen physical exercise, enhance physical fitness, reduce risk factors such as smoking, alcohol, and improve their own immunity.

Osteophytes dysplasia complications Complications pseudo-alopecia areata hip dislocation

There are irregular pseudo-alopecia areata, which can be complicated by hip dislocation and possible contracture of each joint.

Osteoporotic dysplasia Symptoms Common symptoms Dry skin, short erythema, scaly, joint, strong, alopecia, alopecia, bone spots

The child is often a dwarf with a disproportionate short upper arm and thigh, short and thick fingers and toes, strong joints, short neck, flat nose, high upper jaw, arched, and some patients with congenital cataract , defects in the epiphysis or cardiovascular system.

Skin changes occur at birth, manifested as dry skin, small pieces or extensive erythema and scales, easily misdiagnosed as ichthyosis-like erythroderma, some patients may have hand and finger bullae, palmar skin thickening, erythema scales It can be gradually improved. Some patients may have pigmentation spots similar to ink stains. If the patient has more symptoms, he often dies in infancy. The most characteristic skin changes in surviving children are follicular skin atrophy, which is most prominent in the limbs. Thick, and irregular pseudo-alopecia areata.

Often born still or die within 1 week of birth. Infection is often the cause of death. In a few long-term survival cases, it is characterized by: 1 joint stiffness and flexion deformity, especially knee and elbow joints, due to joint capsule fibrosis. 2 bilateral congenital cataracts. 3 short-limb pygmy, the proximal limbs of the limbs are shorter than the distal side, and the lesions are enlarged. 4 skin thickening and hair loss. 5 flat face and nose beam depression. 6 mental retardation, sometimes stunted.

Examination of epiphyseal dysplasia

Bone X-ray examination

It can be seen that the hyaline cartilage of the epiphysis has a punctate calcification and disappears into childhood.

X-ray performance

Characteristically visible, opaque, dispersed or aggregated, increased density spots with clear boundaries, ranging in size from a few millimeters to large lumps, occupying the site of the epiphyseal cartilage. These spots appear earlier than the normal ossification center. At the lower end of the humerus, the upper end of the femur is more obvious. The humerus can be completely replaced by opaque spots. The long bones are shortened and hypertrophied. The femur and tibia are more obvious. The bone ends are flat and the sacral line is irregular. The flat bones and vertebral bodies performed similarly, and calcification was also observed in the nasal septum, trachea, and laryngeal cartilage, resulting in stenosis of the throat. As the age increases, the scattered spots will gradually merge, and the lesions of the epiphysis will also improve.

Diagnosis and differentiation of epiphyseal dysplasia

diagnosis

Skeletal X-ray examination is helpful for diagnosis. For older patients, the disease should be diagnosed based on other defects associated with it.

Differential diagnosis

Attention is distinguished from multiple osteophyte dysplasia. After the disease is 4 to 5 years old, in addition to the calcification of the epiphysis, there are joint pains mainly in the hip and knee joints, no special appearance and cataract.

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