Pediatric progressive diaphyseal dysplasia

Introduction to progressive bone dysplasia in children Progressivediaphyseal dysplasia is also called progressivediaphyseal hyperostosis, also known as diaphyseal sclerosis or Engelman's disease. The disease is characterized by the symmetry of the long tubular bone, the spindle shape expansion and hardening, and the skull also has a similar density change, Engelman syndrome (comgelman) is progressive dysplasia, also known as Camurati-Engelmann syndrome, infant-type multiple Sexual hypertrophic bone disease, etc., is an unexplained, rare bone proliferative sclerosing disease, the disease is autosomal dominant inheritance. basic knowledge The proportion of illness: 0.001% Susceptible people: children Mode of infection: non-infectious Complications: anemia

Pediatric progressive dysplasia etiology

(1) Causes of the disease

The cause is unknown and there is a family morbidity, so it may be related to genetic factors.

(two) pathogenesis

Singleton (1956) believes that thickening of the vessel wall leads to narrowing of the lumen, reduced blood flow to the tissue, resulting in non-specific cortical thickening of the bone, new bone formation in the bone and intima, and small arterial tubes in the bone tissue and adjacent to the subcutaneous tissue. The wall is thickened.

Pediatric progressive dysplasia prevention

The cause of the disease is still unclear, and the genetic counseling work is done with reference to the preventive measures of hereditary diseases.

Pediatric progressive dysplasia complications Complications anemia

Anemia, growth disorders, etc., can cause brain damage, affecting vision and hearing.

Pediatric progressive dysplasia Symptoms Common symptoms Skin rough muscle atrophy Long bones Large baby walking Late gait swing gait Powerless eyeballs Out of the baby Teeth delayed appetite deficiency

Clinically, the symptoms are mostly in childhood, most commonly in children under 6 years old. Boys are more common. The main symptoms are delayed walking, lack of appetite, weight loss, dysplasia, muscle atrophy, weakness or pain, gait., easy to fatigue, teething is too late, palpation can also feel the long tubular bones thick, the predilection sites are tibia, femur, humerus, humerus, humerus and ulna, limb pain sooner or later before 7 years old, and have special swing steps With the increase of age, the range of bone lesions gradually expands, muscle weakness becomes more and more obvious, and the pain is aggravated. The skin of the sick child is rough. Some patients have skin tension on the side of the limb. When the facial bone is involved, the facial skin is tight and the jaw is bright. Bone hyperplasia, skull base and mastoid hyperplasia, due to thickening of the skull, the appearance of the head increases, but also due to nerve hole deformation can cause nerve hole narrowing and cranial nerve damage, affecting vision and hearing, good hair decay Eyeballs and anemia, limbs are not proportional to trunk development, limbs are relatively long, intelligence is normal, general lesions develop slowly, bone lesions until adulthood Exist, and muscle weakness can improve or recover, although some cases of bone lesions significantly, but no clinical symptoms, laboratory examination was unremarkable. In addition, delayed puberty, poor external genitalia and secondary sexual characteristics.

The symptoms mainly occur in the long bones of the extremities, and the lesions are symmetrical and continuous. In some cases, the skull is involved at the same time, and the facial bone is not affected much. Occasionally, the clavicle, ribs, scapula, mandible, short bones of the hands and feet, and spinal bone involvement are rare.

Pediatric progressive dysplasia check

General laboratory tests have no abnormal findings, and there may be anemia, and the amount of peripheral blood hemoglobin and red blood cell count can be reduced.

The X-ray photographs are single, and the backbone of most or all of the long tubular bones is fusiform. The widened cortical bone not only enlarges the outer diameter of the bone, but also causes the narrowing of the bone marrow cavity. The skull changes with the forehead and occipital. The base of the skull and the protrusion of the ankle are thickened and dense.

Diagnosis and differential diagnosis of progressive dysplasia in children

diagnosis

Root clinical manifestations, laboratory tests without special findings and X-ray examination features, can be diagnosed as the disease.

Differential diagnosis

The disease to be identified is mainly differentiated from the disease in which bone hyperplasia is caused.

1. Systemic cortical hyperplasia (Van Buchem disease): In addition to bone hyperplasia, small bone defects can also be seen, serum AKP is elevated, X-ray signs are similar to this disease, the relationship between the two is still unclear.

2. Chronic familial hyperphosphataseemia: the skull is enlarged, the limbs are bent, the muscles are soft and no power, and it is inconvenient.

3. Bone syphilis: more involving long bones, visible bone destruction, positive Kang reaction.

4. Stone osteopathy: progressive anemia, liver and spleen, bone metatarsal and osteophytes are dense and hardened.

5. Primary hypertrophic osteoarthrosis: long and short bone symmetry periosteal hyperplasia, hypertrophy of the skin, clubbing toes.

6. Dense osteogenesis imperfecta: pygmy, small mandible, dysplasia, thick toe at the end of the toe, nails like a spoon, easy to fracture.

7. Osteosclerosis: often accompanied by phlegm and dysplasia of the middle and distal phalanx.

8. Infant bone hyperplasia: more common within 5 months of small infants, irritability, fever, unilateral mandibular compact, bone cortical hyperplasia with the growth of sick children completely disappeared, can be self-healing.

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