Ehlers-Danlos Syndrome: Symptoms on the Face

Ehlers-Danlos syndrome can be manifested by certain facial features. What do they look like and what to do if you suspect you have the disease?

In the skin, muscles, tendons and ligaments, blood vessels, gums, eyes. There is connective tissue everywhere in the body, which is mainly composed of collagen. This fibrous protein gives connective tissue its structure, strength and elasticity, which is what it is responsible for.

In people with Ehlers-Danlos syndrome, the connective tissue is unable to do this job because it is made up of less collagen. Errors in certain genes prevent the body from producing healthy collagen. The result is very loose connective tissue, which leads to excessive joint mobility and excessive skin elasticity, among other things.

However, many other noticeable and visible symptoms are possible. Which depends on which subtype of the syndrome the person suffers from. Specialists currently distinguish 13 subtypes, which can be traced 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 facial features. Facial skin in particular is usually different from healthy people.

It is usually noticeably elastic, which can give it a supple appearance and a soft, velvety texture. In some patients, the skin is thin and translucent so that blood vessels can be seen. In addition, the skin may be prone to bruising and open wounds that heal poorly and leave scars.

In addition to these skin symptoms, some patients notice other abnormalities on their face. The so-called vascular subtype is characterized by the following features of the face, which are characterized by the weakness of the walls of blood vessels:

  • thin lips
  • protruding eyes
  • thin nose
  • no ear lobes
  • Bluish whites of the eyes because the choroid is visible

Blue coloration 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 disturbing symptoms. Due to excessive joint mobility, there is often a risk of strains and sprains.

Depending on the subtype, a number of other consequences are possible, such as pathological changes in the spine or legs, such as curvature of the spine (scoliosis) or clubfoot. Some patients develop a so-called hernia, in which parts of the intestine bulge through the abdominal wall, or protrusions (diverticules) form in the intestine.

All of these health problems can cause great suffering and require medical countermeasures to be addressed as soon as possible. For this reason, it is important that the typical symptoms of Ehlers-Danlos syndrome are checked by a doctor at an early stage.

We recommend that you speak to your family doctor first. He or she can then refer the affected person to a specialist who specializes in the syndrome. A list of relevant contact points can be found on the website of the German Ehlers-Danlos Initiative e-mail v.

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