OVERVIEW
Overview of Ehler-Danlos syndrome
Ehler-Danlos syndrome is a congenital connective tissue defect disorder characterized by hyperelasticity of the skin, fragility of the skin and blood vessels, hypermobility of the joints, and bone, eye, and visceral lesions.
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Department
Pediatrics, Dermatology
Synonyms
Excessive skin elasticity syndrome, Generalized elastic fiber dysplasia, Excessive elasticity of the skin
Clinical Symptoms
Hyperelasticity of the skin, fragility of the skin and blood vessels, hypermobility of the joints, and bone, eye, and visceral lesions.
Harmful effects
Difficulty in hemostasis and slow wound healing. A small number of patients may be accompanied by gastrointestinal vascular wall lesions, which cause recurrent gastrointestinal bleeding or perforation after spontaneous rupture, and may lead to death in severe cases.
Complications
Esophageal hernia, gastrointestinal bleeding, etc.
Examination
Physical examination, histopathologic examination, X-ray film, angiography, chromosome examination, etc. Gene mutation test.
Diagnosis
Diagnosis can be made based on the manifestations of increased skin elasticity, hypermobility of joints, increased fragility of skin and blood vessels, and the appearance of pseudotumor after trauma, combined with skin biopsy, and detection of relevant gene mutations.
Treatment principle
There is no specific treatment. Mild cases do not require treatment, while severe cases can be treated symptomatically. Surgery can be performed if necessary.
Curability
The prognosis is good for those without cardiac lesions. Those with cardiac lesions mostly die of heart failure.
Dietary recommendations
Diet rich in collagen and vitamin E.
Etiology
Causes
More than a dozen genetic mutations, autosomal dominant or autosomal recessive. A congenital defect that results in abnormal biosynthesis or degradation of a component of connective tissue, such as collagen, elastin, or glycosaminoglycans.
Symptoms and Diagnosis
Typical symptoms
Excessive elasticity of the skin; when the skin is lifted, it seems to stretch outward as if it were a rubber band, up to 15 centimeters or more, and then recovers after letting go of the band. Vascular fragility of the skin, a slight trauma to the skin can produce a fish mouth-like fissure, causing hematoma or subcutaneous bleeding, a small number of patients may be accompanied by gastrointestinal vascular wall lesions, spontaneous rupture causes repeated gastrointestinal bleeding or perforation, may also occur esophageal hernia, gastrointestinal bleeding can lead to death in severe cases. There is hypermobility of the joints, but skin scar formation is normal.
Diagnostic basis
Based on the manifestations of increased skin elasticity, joint hypermobility, increased skin and vascular fragility, and the appearance of pseudotumor after traumatic injury, the diagnosis can be made by combining skin biopsy and related gene mutation testing, and the subtype can be specifically identified by combining abnormal findings in other organs or systems.
Treatment
Treatment guidelines
Prevent trauma, protect joints, and treat bleeding and hematoma. Reduce unnecessary surgeries, and once surgical sutures have been applied, apply a compression bandage. There is no specific treatment. Mild cases do not need to be treated and severe cases can be treated symptomatically. If there is an aneurysm, it can be treated surgically, and those with symptoms of hyperactivity can be treated with the central excitatory drug quat methyl ester.
Drug treatment
Blood transfusion and hemostatic drugs should be given in case of gastrointestinal bleeding; cardiac drugs and diuretic drugs can be given in case of heart failure; antibiotics can be used in case of combined infection.
Surgery
Once the joint dislocation occurs, it should be reset in time and fixed with bandage for several weeks. For spinal deformity, orthopedic surgery is feasible to prevent surgical complications such as excessive bleeding, poor suturing and healing. For heart valve deformity, valve replacement surgery is feasible.
Prognosis
Skin vascular fragility enhancement of trauma suture hemostasis difficulty, wound healing is slow, even if healing, the formation of crumpled paper-like thin larger scar, suture points to form a small capsule-like scar, long-term fibrosis can be formed calcium deposition of hard nodules. The prognosis is good for those without heart disease. Those with cardiac lesions mostly die of heart failure. Subcutaneous hemorrhagic, arterial or Sack type, without skin overstretching, but the skin is thin, can see through the subcutaneous reticular veins, easy to bleed. They often die of arterial rupture or gastrointestinal perforation and rarely live into their 20s.
Nursing care
Daily care
1. Keep the indoor air circulating, warm and sunny. 2. Parents should keep a positive and optimistic mindset to enhance the confidence of overcoming the disease. 3. Regularly review the condition and consult the doctor if the child develops any abnormalities. 4.
Diet
Diet rich in collagen and vitamin E.