OVERVIEW
Ehlers-Danlos syndrome, also known as hyperelastic skin, Ehlers-Danlos syndrome, and generalized elastodermal dysplasia, is a condition with a genetic predisposition affecting connective tissues and associated with defects in collagen metabolism. The affected skin is overstretched and soft to the touch with a velvety feel. Because of the overstretching of the skin, it is easy to bruise and form wounds, the blood vessels are brittle and easy to rupture, skin bruising and swelling occurs, and is often complicated by dislocated joints, cardiovascular and gastrointestinal tracts can be enlarged and present as tubulointerstitial tumors, gastrointestinal diverticula, bladder diverticula or rupture and perforation. The disease is most common in preterm babies and infants, and there is often a family history of the disease. Preterm infants are often associated with early rupture of membranes, while infants present with hypotonia. The disease can be divided into 11 subtypes according to clinical and genetic features. There is no cure for the disease.
Symptoms
The disease is often associated with early rupture of membranes in preterm infants. In infants, the disease is characterized by hypotonia. The mode of inheritance and biochemical composition of the patients are distinctive, and a wide range of clinical manifestations can occur, depending on the combination of alleles in the individual. The common features of the disease are:
1. Skin and vascular fragility
Skin tears easily after mild injury and wound healing is slow. The fragility of subcutaneous blood vessels is increased, and bruises are easily formed even with minor injuries.
2. Overstretching of the skin
Very long skin folds can be drawn. In old age, the skin loosens and thins all over the body.
3. Excessive range of motion of joints
Patellar, shoulder, hip, clavicle and temporomandibular joints are easily dislocated. Young children are prone to fall if their joints are hypermobile, and patients can stretch automatically or passively.4 Positive corseted arm test
5. Often associated with secondary infection
6. Sometimes combined with cardiac malformations
Such as mitral valve prolapse, aortic arch abnormality, bicuspid aortic valve, pulmonary stenosis, atrial septal defect, tetralogy of Fallot, etc.
7. Other
Various hernias may occur, such as umbilical hernia, inguinal hernia, hiatal hernia, etc. Lung lesions such as lung rupture, pneumothorax, emphysema, etc. may occur. Dental caries or periodontitis may also occur.
Examination
1. Hematologic examination
Multiple gastrointestinal bleeding may be characterized by varying degrees of anemia, thrombocytopenia, abnormalities of certain coagulation factors and a positive bundle arm test.
2. Immunologic examination
It is common to see a decrease in IgA, IgG or IgM, and a decrease in the number of E-rosette formation.
3. Other auxiliary examinations
X-ray examination shows scattered small round calcified nodules under the skin, widening of the elbow and knee joint gaps, and other skeletal abnormalities. Cardiovascular angiography may show aortic stenosis, aortic atresia, mitral valve insufficiency, spontaneous rupture of the arterial trunk, intercalated aortic aneurysm, arteriovenous fistula, and other congenital cardiac anomalies.
Treatment
There is no specific treatment for this disease. Mild cases do not require treatment, while severe cases can be treated symptomatically. Surgery can be performed if there is an aneurysm, and the central stimulant methylphenidate can be used if there are symptoms of hyperactivity.
Prognosis
Skin vascular fragility enhancement of trauma suturing, hemostasis difficulty, slow wound healing, even if healing, the formation of crumpled paper-like thin and large scar, stitch point formation of small sac-like scar, long-term fibrosis can form calcium deposition of hard nodules. The prognosis is good for those without cardiac lesions, while those with cardiac lesions mostly die of heart failure.