Pediatric Ehler-Danlos Syndrome

Introduction to Children's Eller-Dangluo Syndrome Eller-Danlo syndrome, also known as hyperthermia, congenital connective tissue dysplasia syndrome, Ehlers-Danlossyndrome, Danlos syndrome, Sack syndrome, Sack-Barabas syndrome, VanMeekeventI Syndrome, stretch-vascular fragility-enhancing syndrome, generalized elastic fiber dysplasia, cutishyperelasticasyndrome, joint relaxation-skin capillary rupture-skin relaxation syndrome, Meekeren-Ehlers-Danlos syndrome, India Rubber skin, etc., is a congenital connective tissue defect disease, showing excessive skin elasticity, slow wound healing, excessive joint stretching, enhanced vascular fragility, and pseudo-tumor and other systemic abnormalities after trauma. basic knowledge The proportion of sickness: 0.00351% Susceptible people: children Mode of infection: non-infectious Complications: sudden death, umbilical hernia

The cause of children's Eller-Dan Luo syndrome

Causes:

According to different clinical types, the symptoms are different in genetics. Most of them are autosomal dominant or recessive inheritance type I~IV, some are sexually linked (V type), and type VI and VII are autosomal recessive inheritance.

Pathogenesis:

This symptom is a congenital defect in the metabolic process of collagen fibers and elastic fibers. Type VI is a defect in collagen fibers due to defects in lysine hydroxylase; type VII is due to defects in procollagen polypeptide; type IV is due to type III collagen. Protein synthesis disorders, the main defects are manifested in the lack of collagen fibers, the increase in elastic fibers, the abnormality of elastin and the excessive elasticity of the skin, and the hemorrhagic disease caused by the increase of subcutaneous vascular fragility. Recently, this disease can be associated with 2 macroglobulin. In the absence of a combination of complications, the two may have a chain relationship.

Children's Eller-Dan Luo syndrome prevention

The best way to prevent it is to prevent prenatal care and prevent the birth of children with genetic defects. The birth of a fetus with severe genetic diseases and congenital malformations is prevented by the application of the following techniques.

1. Prevention of genetic diseases

In addition to conducting epidemiological investigations, carrier detection, population genetic monitoring and environmental monitoring from the perspective of the entire population, conducting marriage and birth guidance, striving to reduce the incidence of genetic diseases in the population, and improving the quality of the population, targeting individuals Effective preventive measures must be taken to avoid the birth of genetically ill offspring (ie, eugenics) and genetic variation. The usual measures include premarital examination, genetic counseling, prenatal care, and early treatment of genetic diseases.

Pre-marital medical examination: plays a positive role in preventing birth defects. The size of the effect depends on the examination items and contents, including serological examination (such as hepatitis B virus, treponema pallidum, HIV) and reproductive system examination (such as screening for cervical inflammation). General medical examinations (such as blood pressure, electrocardiogram) and asking about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling. In particular, if there are more than two patients in the family, they should go to the hospital for examination and consultation as soon as possible to eliminate hereditaryity as soon as possible and try to avoid patients with the disease in the next generation.

Prenatal examination: including regular ultrasound examination, serological screening, etc., if necessary, a chromosome examination. Once an abnormal result occurs, it is necessary to determine whether to terminate the pregnancy; the safety of the fetus in the uterus; whether there is sequelae after birth, whether it can be treated, and how the prognosis is. Take practical and feasible treatment measures.

2. Children who have been born should actively prevent skin and joint trauma, avoid unnecessary surgery and strenuous exercise, such as surgery should be pressure bandaged, delayed suture to give evidence for complications.

Pediatric Eller-Dangluo syndrome complications Complications

Mild trauma can cause obvious hematoma, leaving a large scar after the wound, forming a hard subcutaneous nodule, often causing joint dislocation, spine, foot deformity, retinal stripping can cause blindness, can be associated with osteogenesis imperfecta, elastic fiber fake yellow Tumor and Marfan syndrome, complicated by umbilical hernia, hernia, inguinal hernia or gastrointestinal tract, bladder diverticulum, etc., intestinal mucosal hemorrhagic necrosis can form natural perforation, brain and other blood vessels can spontaneously rupture, causing sudden death; some children have congenital heart disease.

Pediatric Eller-Dan Luo syndrome symptoms common symptoms nodular hematoma formation joint varicose veins repeated bleeding

Clinical features

(1) Skin: Excessive elasticity, easy to deform, pull up the skin in the wrinkle area and then relax, the skin can quickly return to the original position, sometimes accompanied by "slap sound", the skin is soft, feels velvety, mild trauma Can cause obvious hematoma, and form a rais-like pseudotumor, the wound heals slowly, leaving a large and atrophic scar, resulting in a hard subcutaneous nodule at the site of traumatic fat necrosis.

(2) Joints: excessive stretching, excessive movement, elbow and knee extension more than 180 °, the thumb can bend to the forearm to the back of the hand, other points to the back side can also bend more than 40 °, the light is limited to the finger (toe) joint, Severe cases can affect shoulders, elbows, hips, knees and other joints of the limbs, affecting gait or joint dislocation, the spine can also involve the formation of posterior scoliosis, deformed feet have also been reported, and muscle dysplasia and muscle tension are also observed in children. decline.

(3) digestive tract: often repeated bleeding in the digestive tract, varicose veins and aneurysms or venous fistulas, rupture of the aorta can cause death.

(4) Eyes: There is often a hematoma formation, the sclera is blue, and there are blood vessel lines at the fundus. In severe cases, the retinal detachment causes blindness.

(5) short stature: the patient's short stature, characteristic facial features, such as wide eyelids, flat nose, convex jaw, lop ear, intraocular suede, some children may be associated with osteogenesis imperfecta, elastic fiber pseudo-xanthoma And Marfan syndrome.

(6) Complications: often accompanied by single or multiple hernias or gastrointestinal tract, bladder diverticulum and other complications.

2. Classification

According to the symptoms and hereditary methods, the symptoms can be divided into 8 types.

(1) Type I: skin, joint symptoms are significant, also known as heavy.

(2) Type II: Lightweight.

(3) Type III: mainly due to excessive joint extension, may be associated with heart valve disease; the above 3 types are all chromosomal dominant inheritance.

(4) Type IV: It is a type of varicose vein or aneurysm. It is mainly caused by vascular damage. It is often life-threatening due to major bleeding or intestinal rupture. Its genetic pattern is unknown.

(5) V type: same as light type, but genetically linked.

(6) Type VI: prominent for ocular symptoms, often accompanied by scoliosis.

(7) Type VII: mainly joint relaxation, often with large joints and semi-dislocation.

(8) Type VIII: Progressive periodontitis, leading to alveolar bone resorption and premature tooth removal.

Pediatric Eller-Dangluo syndrome examination

Blood, urine, routine examination is generally normal, coagulation function, platelet count and other tests are normal.

Positive vascular fragility test, imaging examination can find gastrointestinal tract, bladder diverticulum, congenital heart disease, varicose veins and aneurysms or venous fistula, joint dislocation, spinal deformity, deformity of the foot, wide eyelid, convex jaw, some children can Accompanied by abnormalities such as osteogenesis imperfecta, fluoroscopy in the fundus examination, and retinal detachment in severe cases.

Diagnostic identification of children with Eller-Dangluo syndrome

According to the increase in skin elasticity, excessive joint activity, increased skin and blood vessel fragility, and the appearance of pseudo-tumor after trauma can be diagnosed. Should be differentiated from skin sagging, the latter skin is more wrinkled, no increase in elasticity, and no joints and other symptoms, usually easy to identify.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.