Pediatric scleroderma
Introduction
Introduction to pediatric scleroderma Scleroderma is a rare chronic connective tissue disease in childhood. It can be divided into two types: localized scleroderma (systemic sclerroderma) and systemic sclerosis (SSc). The former is mainly characterized by localized skin thickening and fibrosis. In addition to diffuse thickening and fibrosis of the skin, internal organs such as heart, lung, kidney and digestive tract can also be violated. There is no essential difference between the two in terms of clinical and pathological. basic knowledge Sickness ratio: 0.05% Susceptible people: children Mode of infection: non-infectious Complications: dysphagia, malabsorption syndrome, interstitial pneumonia, arrhythmia, pericarditis, pulmonary hypertension
Cause
Causes of scleroderma in children
(1) Causes of the disease
The etiology is unclear. Many reports suggest that autoimmune diseases caused by certain factors are involved in the involvement of genetic factors (such as higher frequency of HLADR1 and DR3), and that the fibrotic lesions and serotonin metabolism are abnormal. related.
(two) pathogenesis
In recent years, many reports have suggested the theory of vascular, immune and metabolic abnormalities.
Vascular abnormality theory
In recent years, it has been considered that scleroderma is the result of repeated damage of vascular endothelial cells, especially microvascular endothelial cells. Endothelial damage causes an increase in capillary permeability. Platelet factor activates fibroblasts in the interstitial space around the vessel wall to secrete a large amount of collagen. And cause fibrosis.
2. Immunization mechanism
T lymphocyte-mediated autoreactivity to connective tissue or other antigens leads to the release of lymphokines and mononuclear factors, which stimulates fibroblasts to secrete large amounts of collagen. In recent years, many sources have mentioned that patients have hypergammaglobulinemia. Some patients have various specific autoantibodies and rheumatoid factors in their serum. All of these changes suggest that immune factors play a major role in the pathogenesis of this disease.
3. Connective tissue metabolism abnormalities
Excessive fibrosis in tissues is a feature of scleroderma. In the skin of patients with scleroderma, the number of fibroblasts is increased, which leads to an increase in collagen synthesis. It is also believed that fibrotic lesions and collagen molecules are abnormally glycosylated and hydroxylated. This blocks the feedback mechanism that effectively controls collagen synthesis.
4. Genetic basis
It has been reported that there are patients with the same disease in the relatives of scleroderma. There are many reports that HLA has a certain correlation with the disease, but the results are not completely consistent. The report is related to HLA-A9, B8 and Bw35, and DR3, DR5. There are also reports related to DQB3.1, DQB1.1, DQB1.2 and DQB1.3.
5. Pathological changes
The main pathological manifestations are connective tissue inflammatory cell infiltration, intimal hyperplasia, vascular wall atrophy, fibrosis, resulting in stenosis or occlusion of the lumen, more than 90% of children with systemic sclerosis have Raynaud's phenomenon, visceral muscle fibrosis, Atrophy, intermuscular fibrous tissue hyperplasia and organ hardening.
Prevention
Pediatric scleroderma prevention
According to the incidence of the disease, more attention should be paid to infection, trauma, drugs, and genetic immune responses.
1. Remove infected lesions, pay attention to hygiene, strengthen physical exercise, and improve the body's own immune function.
2. The law of life, work and rest, comfortable, avoid strong mental stimulation.
Complication
Pediatric scleroderma complications Complications dysphagia malabsorption syndrome interstitial pneumonia arrhythmia pericarditis pulmonary hypertension
The finger pad is lost due to ischemia, the phalanx is dissolved, absorbed and shortened, and the muscle can be atrophied. Can cause difficulty swallowing, reflux esophagitis, malabsorption syndrome. Interstitial pneumonia, pulmonary fibrosis; heart failure, pericarditis, arrhythmia, pulmonary hypertension. There may be rapid hypertension and progressive renal failure. Can be complicated by multiple neuritis.
Symptom
Symptoms of scleroderma in children Common symptoms Local skin tightening Skin tightness Hypertrophy Loss of elastic skin Atrophy and pigmentation Joint pain Multi-neuritis Nephrolysis protein Urinary skin temperature Reduces skin hardening
1. The onset is often insidious.
2. Skin, mucous membrane: The beginning of skin lesions is seen on both sides of the fingers, the face, the posterior torso spread, undergoing edema (skin thickening, tension, paleness and skin temperature reduction), hardening period (skin thickening, hardening like leather, It has a waxy luster, a mask-like appearance on the face, wrinkles disappear and difficulty in opening the mouth. In the final atrophy period (the skin is smooth and thin as the parchment is closely attached to the subcutaneous bone surface), the mucosa (such as the oral cavity and vaginal mucosa) can be hardened and atrophied.
3. Raynaud's phenomenon: The first symptom of about 70% of patients, sometimes the only manifestation of early scleroderma, is one of the typical symptoms of the disease.
4. Joints and muscles: Arthritis or joint pain, common in finger joints, fingertips can be lost due to ischemia, phalanx is dissolved, absorbed and shortened, muscle weakness and atrophy.
5. Digestive system: Esophageal involvement causes difficulty in swallowing, reflux esophagitis, malabsorption syndrome, etc.
6. Lung: Interstitial pneumonia, fibrosis, ventilation, and impaired ventilation.
7. Heart: Heart enlargement, heart failure, pericarditis, arrhythmia and pulmonary hypertension are one of the important causes of death.
8. Kidney: About 17% of the affected, proteinuria, hematuria, and sometimes scleroderma crisis (rapid hypertensive, progressive renal failure) is one of the most important causes of death.
9. Others: fever, polyneuritis, etc.
10. Classification
(1) Limitation: The lesion is limited to the skin and has a good prognosis. This type has a special clinical manifestation called CREST syndrome (subcutaneous calcification, Raynaud's sign, esophageal motor dysfunction, hard finger and telangiectasia).
(2) diffuse type: skin lesions affect the whole body, progress is fast, internal organs are involved.
(3) Overlapping: limited or diffuse with another connective tissue disease.
Examine
Pediatric scleroderma examination
1. ESR is accelerating.
2. Autoantibodies
(1) Antinuclear antibody: positive, mainly based on spot type and nucleoli type.
(2) Anti-Scl-70 antibody: positive, diffuse SSc-labeled antibody.
(3) Anti-centromere antibody: It is a localized SSc-labeled antibody, especially positive for CREST syndrome.
(4) Anti-nucleoside antibody: positive.
3. Skin biopsy: collagen fibers proliferate, swell, harden and atrophy, connective tissue cells infiltrate, small vessel wall thickens, lumens become smaller and occluded.
4. X-ray examination: weakened esophageal peristalsis, stiff wall, interstitial pneumonia, pulmonary fibrosis, etc.
5. Pulmonary function measurement: lung capacity and diffusion function are reduced.
Diagnosis
Diagnosis and diagnosis of scleroderma in children
diagnosis
The SSc classification standard developed by the American Society of Rheumatology in 1980:
1. Main indicators: proximal hard skin: symmetrical fingers and palmar or proximal toe skin thickened, tight, similar lesions are also seen in the entire limbs, face and neck, trunk (chest and abdomen).
2. Minor indicators
(1) Hard finger: The above skin changes are limited to the fingers.
(2) The fingertip can be concave or the finger pad becomes thin and lost.
(3) Fibrosis at the base of the lung: in patients with no primary lung disease, reticular cords appear at the bottom of both lungs, nodules, increased density, and may also be diffuse spots or honeycombs.
With the above main indicators or 2 secondary indicators can be diagnosed as SSc.
Differential diagnosis
1. Local scleroderma: local skin becomes hard and linear or spotted, with clear boundaries, no serological and visceral lesions.
2. Mixed connective tissue disease: the disease has finger swelling, Raynaud's phenomenon, easy to be confused with SSc, but it has both lupus and myositis manifestations, such as proteinuria, muscle weakness, increased muscle enzymes, high titer anti-RNP antibodies can be identified .
3. Eosinophilic fasciitis: local tenderness, swelling, induration of the limbs, but generally does not affect the hands, feet and face, eosinophilia, no Raynaud's phenomenon and visceral damage, negative autoantibodies, deep fascia visible in biopsy The subcutaneous tissue is extensively inflammatory and hardened.
4. Self-limiting hard swollen disease: the skin is hard, but:
1 The disease develops rapidly, and the skin can be affected in the short term, but the hands and feet are often not tired;
2 no Raynaud phenomenon;
3 anti-Scl-70 antibody and other negative;
4 the course of disease is often self-limiting;
5 often have a history of infection before the onset, such as flu, pharyngitis, tonsillitis and so on.
