Ehlers-Danlos Syndrome

Stretchy skin with joint hypermobility is common in Classical Ehlers Danlos Syndrome. These patients tend to have a poor time healing. Sprains, subluxations/dislocations, and flat feet are common as well with this type.

Frequent subluxations and dislocations of both small and large joints are prevalent. The most common are the shoulder, patella (knee), and temporomandibular joint (jaw). Chronic pain is common due to muscle spasms creating trigger points (similar to knots in muscle) and degenerative arthritis. Neuropathic “nerve” pain is also a common presentation.

This is the most serious form of EDS due to the possibility of organ or arterial rupture. Veins are more visible through this skin at chest and abdomen. There are facial manifestations that include: large eyes, thin nose, lobeless ears, short stature and thin scalp hair. Excessive bruising can occur with the mildest of trauma. Arterial rupture is the most common cause of sudden death. Life expectancy is in the forties due to chance of arterial or organ rupture. Pregnancies can cause complications and should be closely monitored.

This type has generalized joint laxity and severe muscle hypotonia (weak muscle tone) at birth which can delay gross motor development of children. Scoliosis, an abnormal curvature of the spine, is present at birth. Similar to some of the other types of EDS, arterial ruptures and atrophic scars can occur. This type occurs when there is a deficiency of the enzyme lysyl hydroxylase.

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is a heritable connective tissue disorder that causes congenital bilateral hip dislocation, generalized joint hypermobility, and joint instability.  aEDS is an ultra-rare disorder that affects less than 1 in 1 million people.

Severe skin fragility and substantial bruising is common with this type of EDS. Although wounds heal normally, no atrophic scarring. This skin is described as soft and doughy with an increased risk of large hernias.