bubble_chart Overview

Dysplasia epiphysialis punctata is primarily characterized by scattered calcification points in the epiphyseal region. It is also known as chondrodystrophia calcificans congenita and stippled epiphyses.

bubble_chart Etiology

The cause of the disease is unknown and is considered a congenital anomaly. It manifests at birth, and most people believe the condition is not hereditary, with rare family history. However, some argue that it is hereditary and classify it into autosomal recessive and dominant inheritance based on X-ray findings.

bubble_chart Pathological Changes

Under the microscope, it can be observed that the epiphyseal vessels and chondroblast maturation are highly irregular. The ectopic ossification zones, along with cartilage-like tissue containing calcium salt deposits, form the speckled appearance seen on X-rays. Between the calcified areas are myxoid tissue and regions of cystic degeneration. Over time, the calcified zones gradually merge and eventually complete ossification. The muscles and connective tissues adjacent to the joints also exhibit fibrous degenerative changes.

bubble_chart Clinical Manifestations

Often stillbirth or death within 1 week after birth. Infection is frequently the cause of death. In a few long-term surviving cases, the manifestations include: ① Joint stiffness and flexion deformities are characteristic, especially in the knee and elbow joints, due to capsular fibrosis. ② Bilateral congenital white internal visual obstruction. ③ Short-limbed dwarfism, with the proximal limb bones shorter than the distal ones, and enlarged affected epiphyses. ④ Thickened skin and alopecia areata. ⑤ Flat face and depressed nasal bridge. ⑥ Intellectual disability, sometimes with developmental delay.

Radiographic findings Characteristically, radiopaque scattered or aggregated dense spots with clear boundaries are visible, ranging in size from a few millimeters to large fused areas occupying the epiphyseal cartilage regions. These spots appear earlier than normal ossification centers. They are more pronounced in the lower end of the humerus and the upper end of the femur. The tarsal bones may be completely replaced by radiopaque spots. The long bone shafts are shortened and thickened, particularly in the femur and humerus, with splayed bone ends and irregular epiphyseal lines. Flat bones and vertebral bodies show similar changes. Calcifications may also be seen in the nasal septum, trachea, and laryngeal cartilage, leading to laryngeal stenosis. With age, the scattered spots gradually fuse, and the epiphyseal lesions improve.

bubble_chart Diagnosis

The diagnosis relies entirely on X-ray examination. Clinical manifestations such as congenital white internal visual obstruction, hyperkeratosis of the skin, and joint contractures can serve as references. The diagnosis is generally not difficult. The main differential diagnoses are multiple epiphyseal dysplasia and cretinism. When the amount of calcium dissipating ecchymosis is minimal, it can easily be confused with osteochondritis or mistaken for a sequela of osteochondritis.

bubble_chart Treatment Measures

There is no treatment for the cause of the disease. Osteotomy to correct deformities and treatment for internal visual obstruction may be considered in some cases.

bubble_chart Prognosis

Some believe it is related to inheritance patterns: recessive inheritance; many vertebral bodies in affected children exhibit a vertical translucent band, with relatively symmetrical shortening of the limbs, more pronounced shortening of the humerus and femur, irregular metaphyses, and significantly delayed and disrupted epiphyseal calcification. The prognosis is poor, with few children surviving beyond one year. Dominant inheritance manifests as unilateral, asymmetrical limb shortening, without vertical translucent bands in the vertebral bodies, and the prognosis is better.