punctate epiphyseal dysplasia
Introduction
Brief introduction of punctate callus dysplasia The dysplasiaepiphysialpunctata is mainly characterized by scattered calcifications in the epiphysis, also known as chondrodystro-phiacalcificans congenito and stipple depiphyses. Some people think that it is related to hereditary mode: recessive inheritance; many vertebral bodies of children have a vertical light-transmitting strip, the limbs are shortened more symmetrically, the tibia and femur shortening are more obvious, the metaphyseal end is irregular, and the epiphyseal calcification is obviously delayed and destroyed. . The prognosis is poor, and few children can live to 1 year old; the dominant hereditary manifestations are unilaterally asymmetrical limb shortening, and the vertebral body has no vertical light transmission zone, and the prognosis is good. basic knowledge The proportion of sickness: 0.01%-0.05% Susceptible people: no specific population Mode of infection: non-infectious Complications: congenital cataract
Cause
Epiphyseal dysplasia
[Etiology]
The cause of this disease is unknown, it is a congenital anomaly, and it is a disease at birth. Most people think that the disease is not hereditary and has little family history. However, some people think that the disease is hereditary and is divided into frequent according to the X-ray performance. Both cryptic and dominant inheritance.
[pathological changes]
Under the microscope, the osteophytes and chondroblasts mature very irregularly, the ectopic ossification area, and the cartilage-like tissue with calcium deposits constitute the spots on the X-ray, and the mucin-like tissue between the calcifications And cystic degenerative zone, the subsequent calcification zone gradually merged, and then completed ossification, muscles and connective tissue adjacent to the joint also have fibrous degeneration.
Prevention
Prevention of punctate callus dysplasia
The disease is a congenital disease with no effective preventive measures.
Complication
Pointed epiphyseal dysplasia Complications congenital cataract
The main symptoms of this disease are joint stiffness and flexion contracture, so the hips, knees, ankles, shoulders, elbows, and wrists are all semi-flexed and cannot be straightened, sometimes combined with other bone and joint deformities such as hemivertebra, hip joints. Dysplasia, hip dislocation and deformed feet, and some children with congenital cataract.
Symptom
Symptoms of punctate epiphysis development Common symptoms Mental retardation flat face hips, knees, elbows... Joint stiff nose bridge collapse young cataract
The disease is often manifested as stillbirth or death within 1 week after birth. Infection is often the cause of death. In a few long-term survival cases, it is:
1 joint stiffness and flexion deformity are characterized, especially the 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.
Examine
Examination of abnormalities of punctate epiphyses
The auxiliary examination method for this disease is mainly X-ray examination:
X-ray appearance: characteristically visible opaque, scattered or aggregated spots with increased density, with clear boundaries, ranging in size from a few millimeters to large lumps, occupying the site of the epiphyseal cartilage, which are more ossified than normal The center appears early, 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 in a figure-eight shape, the sacral line Irregular, flat bone and vertebral body similar performance, calcification can also be seen in the nasal septum, trachea and laryngeal cartilage, resulting in laryngeal stenosis, with the increase of age, scattered spots will gradually merge, osteophyte lesions also improved.
Diagnosis
Diagnosis and diagnosis of abnormal development of punctate callus
In terms of diagnosis, the disease relies entirely on X-ray examination. For example, congenital cataract in the clinic, hyperkeratosis of the skin, joint contracture, etc. can be used as a reference. The diagnosis is generally not difficult. The diseases that need to be differentiated from the disease include:
1. Multiple epiphyseal dysplasia;
2, cretinism;
3, osteochondritis: when the amount of calcification is small, it is easy to be mixed with osteochondritis, or mistakenly considered to be the sequelae of osteochondritis.
