Pediatric pseudoxanthoma elastica
Introduction
Introduction to children's elastic pseudo-xanthoma Elastic pseudo-xanthoma, pseudo-elastic yellow tumor, also known as pseudooxanthomaelasticum, malaria-elastic disease (elastosisdystrophica), systemic elastic fiber disease (systemicelasticdisease), generalized elastic fiber fragmentation (generalizedelastorrhexis) ), Hereditary Elastodystrophy, Grönblad-Strandberg syndrome, Grönblad-Strandberg-Touraine syndrome, Touraine syndrome, Darier-Grönblad-Strandberg syndrome, and the like. This symptom is a rare systemic connective tissue disease with extensive elastic tissue degeneration. The syndrome has four characteristics: pseudo-elastic yellow tumor of the skin; retinal vascular-like streaks; severe recurrent gastrointestinal bleeding; and weakened pulse. basic knowledge The proportion of illness: 0.005% Susceptible people: children Mode of infection: non-infectious Complications: gastrointestinal bleeding, hematuria, angina, hypertension, diabetes
Cause
The cause of elastic pseudo-xanthoma in children
(1) Causes of the disease
The cause of elastic pseudo-yellow tumor is unknown. This disease is a group of hereditary diseases affected by elastic tissue. It is characterized by elastic fiber degeneration, and has special changes in skin, cardiovascular and eye.
(two) pathogenesis
The disease is a systemic connective tissue disease, which is characterized by extensive elastic tissue degeneration, which may be an autosomal recessive disorder, occasionally dominant, and there are a few reports that it can be ill for several generations.
Prevention
Children's elastic pseudo-xanthoma prevention
Pay attention to the prevention of genetic diseases.
Complication
Children with elastic pseudo-xanoma complications Complications, digestive tract bleeding, hematuria, angina, hypertension, diabetes
Occasionally can develop chronic granulomatous nodules, eventually blinded by retinal atherosclerosis, may have gastrointestinal bleeding or hematuria, angina pectoris, high blood pressure, may be associated with hyperthyroidism, diabetes, deformity osteitis, sickle cell Anemia, calcareous deposits, intracranial hemangioma, etc.
Symptom
Children with elastic pseudo-yellow tumor symptoms common symptoms apical rash upper gastrointestinal bleeding hypertension hardening black stool intermittent sputum nasal bleeding bloody angina pectoris hematuria
It can occur at any age, most of which occur before the age of 30, and also have childhood onset.
1. Skin damage: the neck side, the subclavian, the iliac crest, the abdominal wall, the groin, the perineum, the thigh, etc. are good hair areas. The skin of these parts can be seen with some yellow or milky white macules with a diameter of 1 to 3 mm, according to strips or nets. Arranged into a piece, accompanied by telangiectasia, lip inside, sputum, nose, gastrointestinal, vaginal and other mucous membranes can also be affected, skin lesions often remain unchanged for a long time, and there is a tendency to symmetry distribution, and even develop into chronic granuloma The skin is thickened, soft and slightly wrinkled.
2. Ocular lesions: The appearance of vascular streaks in the eye can be more obvious than the lesions. Even this performance lasts for several years. The disease is often found in the ophthalmology. The typical ocular lesions are retinal vascular-like streaks, which are broken by Bruch membrane. , caused by elastic tissue degeneration, often in different colors (brown, brown red, gray, brown gray or even red), wide and narrow vascular-like stripes, more discs in the optic disc area, and they are star-shaped, sometimes accompanied by bleeding or Leakage, vision loss, and eventually blindness due to retinal hardening.
3. Gastrointestinal hemorrhage: due to degeneration of connective tissue in the middle of the vessel wall, degeneration, disruption, vascular disease, clinical common gastrointestinal bleeding, such as hematemesis, blood in the stool or black stool, nasal bleeding or hematuria.
4. Cardiovascular disease: heart disease occurs in the elastic fibers of the heart valve and myocardium, but not in the coronary arteries. Young patients often have angina pectoris, peripheral blood vessels, and even vascular calcification. About one-third of patients can develop high blood pressure. There may also be adolescent calf spasm and intermittent claudication, weakened or untouched blood vessels in the arms and lower extremities, and a flat pulse curve.
Examine
Examination of children with elastic pseudo-xanthoma
1. Blood test: may have anemia; associated with hyperthyroidism T3, T4 and other abnormalities, may have increased blood sugar.
2. Urine examination: may have hematuria, urine sugar is positive.
3. stool examination: may have occult blood positive.
4. Pathological examination: The early stage of skin biopsy is mainly composed of elastic fiber calcinosis. In the middle and later stages, the elastic fibers in the middle of the dermis have swelling, fracture, degeneration and other changes, and there are large calcareous deposits. These changes are helpful for diagnosis.
5. Should be done ECG examination, the need to pay attention to the fundus examination of suspicious patients; X-ray examination showed peripheral arterial calcification, especially the lower limbs.
Diagnosis
Diagnosis and diagnosis of children with elastic pseudo-yellow tumor
diagnosis
The clinical manifestations of this symptom are quite special, and the diagnosis of typical lesions is easy to establish.
Differential diagnosis
Identification with hypertension, coronary heart disease, hyperthyroidism, diabetes, etc., clinical features and laboratory results can help to confirm the diagnosis.
