2024-03-21 09:06:49
Ehlers-Danlos syndrome can manifest itself through certain facial features. What they look like and what to do if you suspect you have the disease.
In the skin, in muscles, tendons and ligaments, in blood vessels, in the gums, in the eyes: everywhere in the body there is connective tissue, which is mainly made up of collagen. This fibrous protein gives the connective tissue structure, strength and elasticity – that’s what it’s responsible for.
In people with Ehlers-Danlos syndrome, the connective tissue is unable to do this job because it is made up of deficient collagen. Errors in certain genes prevent the body from producing healthy collagen. The result is very weak connective tissue, which, among other things, causes the joints to be too mobile and the skin to be excessively stretchy.
However, numerous other noticeable and visible symptoms are possible. Which one depends on which subtype of the syndrome a person suffers from. Experts currently distinguish between 13 subtypes, which can be traced back to various errors in the genetic material.
How does Ehlers-Danlos syndrome manifest itself on the face?
Ehlers-Danlos syndrome can also be recognized by certain features on the face. Facial skin in particular is usually different than that of healthy people.
It is usually noticeably stretchy, which can give it a floppy appearance and a soft, velvety texture. In some sufferers, the skin is thin and translucent so that blood vessels can be seen. In addition, the skin can be prone to bruising and open wounds, which heal poorly and leave scars.
In addition to these skin symptoms, some sufferers notice other abnormalities on their face. The following facial features are typical for the so-called vascular subtype, which is characterized by weakness of the blood vessel walls:
- thin lips
- protruding eyes
- slim nose
- missing earlobes
- Bluish whites of the eyes because the choroid shows through
The blue color of the whites of the eyes can also occur in some other subtypes of Ehlers-Danlos syndrome.
What should you do if you have signs of Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome causes distressing symptoms. Due to the excessive mobility of the joints, there is often a risk of strains and sprains.
Depending on the subtype, a number of other consequences are possible, for example pathological changes to the spine or feet such as a curvature of the spine (scoliosis) or a club foot. Some affected people develop a so-called hernia, in which parts of the intestine bulge through the abdominal wall, or protrusions (diverticula) form in the intestine.
All of these health problems can cause a lot of suffering and require targeted medical countermeasures as soon as possible. That is why it is important to have characteristic symptoms of Ehlers-Danlos syndrome checked by a doctor at an early stage.
We recommend that you first speak to your family doctor. She or he can then refer the affected person to a specialist practice that specializes in the syndrome. A list of suitable contact points can be found on the website of the German Ehlers-Danlos Initiative e. v.
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