| Ehlers-Danlos
syndrome
This type is generally regarded as the most serious
form of Ehlers-Danlos syndrome due to the possibility of
arterial or organ rupture. The skin is usually thin and translucent with veins being seen
through the skin. This is most apparent over the chest and abdomen. There are certain
facial characteristics present in some affected individuals.These manifestations include
large eyes, thin nose, lobeless ears,short stature and thin scalp hair. Also evident is a
decrease in subcutaneous tissue, particularly in the face and extremities.Minor trauma can
lead to extensive bruising.
Arterial/intestinal/uterine fragility or rupture commonly
arise in this type of Ehlers-Danlos syndrome. Spontaneous arterial rupture has a peak
incidence in the third or fourth decade of life, but may occur earlier.Midsize arteries
are commonly involved. Arterial rupture is the most common cause of sudden death. Acute
diffuse or localized abdominal or flank pain is a common presentation of arterial or
intestinal rupture. Life expectancy is shortened with a majority of individuals living
only into their forties. Pregnancies maybe complicated by intra-partum uterine rupture and
pre- and postpartum arterial bleeding.
Joint hypermobility is usually limited to the digits.
Tendon and muscle rupture can occur. Talipes equinovarus (clubfoot) is frequently seen at
birth. Other manifestations that may be found in the Vascular Type include: acrogeria
(premature aging of the skin of the hands and feet); early onset varicose veins;
arteriovenousfistula (an opening between an artery and vein), carotid-cavernousfistula;
pneumothorax (collapse of a lung) /pneumohemothorax (collapse of a lung with a collection
of air or gas and blood); gingivalrecession and complications during and after surgery
(i.e. wounddehiscence).
The Vascular Type of Ehlers-Danlos syndrome is caused by structural defects in the proa1(III) chain of collagen type
III encodes by COL3A1. This type of EDS is inherited in an autosomal dominant manner. A
skin biopsy can diagnose this type of EDS.
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