Erythematous dwarf syndrome in children

Introduction to facial erythema syndrome in children Facial erythematosus syndrome (facialtelangiectasisofdwarfssyndrome) is an autosomal recessive hereditary disease characterized by three major clinical features such as dwarf, light sensitivity and facial telangiectasia. Bloom first reported a congenital telangiectasia effigy known as lupus erythematosus. In 1983, Zeng reported that the disease was characterized by facial erythema dwarf syndrome, pygmy facial telangiectasia, uterus dwarfism, primordial dwarf, congenital telangiectasia. This condition is also known as congenital telangiecta erythema, Bloom syndrome, chromosomal instability syndrome, pygmy telangiectasia, chromosomal fragility syndrome, chromosome rupture syndrome (chromosomalleakageBloom-Torre) -Mackacek syndrome syndrome). basic knowledge The proportion of illness: 0.002% Susceptible people: children Mode of infection: non-infectious Complications: cryptorchidism leukemia malignant tumor

The cause of facial erythema syndrome in children

(1) Causes of the disease

In 1954, this symptom was reported by Bloom, Torre, and Mackacek. The sign is autosomal recessive, and there is no obvious gender difference in the onset.

(two) pathogenesis

This syndrome is a typical "chromosomal break syndrome". When examining the signs of the disease, there are visible chromosome breaks and rearrangements. Due to the presence of abnormal lesion genes, the accumulation of abnormal substances in the patient's body and the abnormal deposition of normal substances eventually lead to a series of clinical symptoms.

In 1974, Chaganti et al found that the lymphocyte sister chromatid exchange rate (SCE) of this disease was 11 times higher than that of normal people. It was also found that the frequency of SCE of fibroblasts in this disease can be significantly increased, higher than normal. 9 to 11 times.

Pediatric facial erythema syndrome prevention

Listen to the doctor's advice and take some precautions.

Pediatric facial erythema syndrome complications Complications, cryptorchidism, leukemia, malignancy

1, developmental deformity. Often accompanied by (toe), multi-finger (toe), cryptorchidism, short limbs, foot varus, hypospadias and other abnormalities.

2, blood diseases, such as leukemia and other blood diseases are prone to occur.

3. Malignant tumors. Patients with this condition have a tendency to malignant tumors, and about one-sixth of patients can develop primary malignant tumors.

Pediatric facial erythema syndrome symptoms common symptoms coffee spots grow slowly facial hairy lower limbs shorten weight loss erythema scales

The symptoms are mainly pygmy, sensitive to light and facial telangiectasia erythema.

1, the onset time. This symptom mainly occurs in infants and young children from 15 days to 3 months after birth.

2. Symptoms. It can be seen that the child has growth retardation, low body weight, and sunlight-induced facial telangiectasia erythema.

(1) Skin lesion damage. Generally limited to the back of the hands and feet, the face, showing erythema, telangiectasia. Facial erythema can be distributed in a butterfly shape, sometimes erythema is edema or blisters, and the smashed surface leaves the pigmentation loss spots. No lesions involving the trunk were found in the literature.

(2) Sensitive to light. In the case of light or sunlight, skin lesions such as erythema, papules, and blisters may be induced, which may be alleviated or aggravated in the summer and aggravated in the summer. Some patients may reduce or disappear after puberty.

(3) Growth and development are delayed. Almost all of the patients are gnomes, and some scholars believe that they are pituitary gnomes, but they are also considered to be primordial gnomes. Some scholars believe that the mental development of this disease is not affected.

(4) accompanying symptoms. Visible ichthyosis, acanthosis nigricans, coffee spots, hairy, long skull, small nose, large ears, lack of incisors, and refers to (toe), multi-finger (toe), cryptorchidism, short limbs, varus, urethra Crack and other deformities.

3, this symptom can be complicated by leukemia and a tendency to have malignant tumors, about one-sixth of patients can develop primary malignant tumors, half of which are acute lymphoblastic leukemia.

Examination of facial erythema syndrome in children

Inspection items include:

(1) Laboratory inspection

1, blood routine. At the time of concurrent infection, a white blood cell count and a significant increase in neutrophils were seen.

Patients with concurrent leukemia can find various abnormalities in the corresponding peripheral blood:

(1) Anemia: The degree of anemia is different, but it progresses rapidly, most of them are leukocytosis type, often greater than 10×109/L. It can also be normal or reduced, and the surrounding white blood cells can be classified into naive white blood cells, and the hemoglobin is often less than 70g/L.

(2) Classification diagnosis: By chemical staining, lysozyme measurement, chromosome and immunological examination have certain significance for the diagnosis and classification of acute leukemia.

2. Bone marrow examination. When the blood disease is complicated, the bone marrow hyperplasia is active, and the original cells (protoplasmic granulocyte type I+II type) are more than 30%, and the nucleated cells are significantly proliferated, and the erythroid and megakaryocytes are significantly reduced.

3. Chromosome examination. When the peripheral red blood cells or fibroblasts are cultured in vitro, the frequency of chromosome breakage is high, and there is a toggle fracture and a simple fracture. This phenomenon is called "chromosomal fragility syndrome".

4. Lymphocyte sister chromatid exchange rate (SCE) check. SCE was significantly higher than normal, and the fibroblast SCE frequency could be significantly increased. It is of great significance for the diagnosis of this disease.

5. Immune function test. Most of the immune abnormalities were hypergammaglobulinemia, normal serum IgG, low IgA and IgM, and low lymphocyte function.

(2) Imaging examination.

X-ray, B-ultrasound and other examinations can confirm the presence of deformities such as (toe), multiple fingers (toe), and cryptorchidism. Helps to fully understand the patients with this symptom.

Diagnosis and diagnosis of facial erythema syndrome in children

Diagnostic points

1. The current lymphocyte sister chromatid exchange rate (SCE) test is an extremely effective method for the diagnosis of this disease.

2, according to the clinical manifestations of skin lesions often occur in contact with sunlight after the characteristics of the diagnosis can be considered.

Differential diagnosis

This condition should be differentiated from Cockayne syndrome, congenital cutaneous heterochromia, ataxia telangiectasia, lupus erythematosus, congenital porphyrin and other photosensigenic skin diseases.

Combined with medical history, clinical features and laboratory tests, the distinction can be distinguished.

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