Ehler-Danlos syndrome
Introduction
Introduction to Ehler-Danlos Syndrome Ehler-Danlos syndrome, also known as skin hyperelastic syndrome, is a congenital connective tissue defect disease. It is mainly characterized by excessive skin elasticity, skin and blood vessel weakness and joint mobility. This disease is rare, male. More than women, often have a family history, is an autosomal dominant inheritance, but also characterized by recessive inheritance. basic knowledge The proportion of illness: 0.001% Susceptible people: no special people Mode of infection: non-infectious Complications: gastrointestinal bleeding
Cause
Ehler-Danlos syndrome etiology
A disease caused by an abnormality in the biosynthesis or degradation of a component (such as collagen, elastin or glycosaminoglycan) in connective tissue due to congenital defects.
Prevention
Ehler-Danlos syndrome prevention
This disease is a congenital connective tissue defect disease, often with a family history, is an autosomal dominant inheritance, so there is no special preventive measures.
Complication
Complications of Ehler-Danlos syndrome Complications, gastrointestinal bleeding
Common complications of this disease include gastrointestinal bleeding or perforation, esophageal spasm, and even death.
Symptom
Symptoms of Ehler-Danlos Syndrome Common Symptoms Excessive skin stretching of upper gastrointestinal bleeding
Excessive skin elasticity, when pulling the skin, it seems that the rubber band is stretched outwards, can be pulled to 15cm or more, and it can be restored after release. The skin blood vessels are weak, and the skin can be slightly wounded to produce fish-like cracks, causing hematoma or subcutaneous hemorrhage. The patient may be accompanied by vascular wall lesions of the gastrointestinal tract. Repeated gastrointestinal bleeding or perforation may occur after spontaneous rupture. Esophageal fistula may also occur, and death may occur when the gastrointestinal hemorrhage is severe.
Examine
Examination of Ehler-Danlos syndrome
Angiography
2. Endoscopy;
3. Chromosome examination.
Diagnosis
Diagnosis and identification of Ehler-Danlos syndrome
diagnosis
Diagnosis can be made based on typical clinical manifestations.
Differential diagnosis
1. Skin relaxation The skin is loose and wrinkled, without excessive stretching of the skin and joints.
2. Tuner syndrome shows skin joint relaxation, but there are neck sputum, pygmy childishness and sexual dysplasia.
3. Marfan syndrome can have excessive joint stretching and dislocation of the joints, eye and cardiovascular abnormalities, and characteristic spider mites can be seen.
