Thin translucent skin reveals the subcutaneous venous pattern, and is particularly apparent over the chest and abdomen. Facial appearance is characteristic in some affected individuals. A decrease in subcutaneous tissue, particularly in the face and extremities is evident. Minor trauma can lead to extensive bruising. Arterial/intestinal/uterine fragility or rupture commonly arise in this type of EDS. 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. Life expectancy is shortened with a majority of individuals.
Joint hypermobility is usually limited to the digits. Tendon and muscle rupture can occur. Talipes equinovarus is frequently seen at birth. Other manifestations that may be found include: acrogeria; early onset varicose veins; arteriovenous, carotid-cavernous fistula; pneumothorax/pneumohemothorax; gingival recession; complications during and after surgery.
Vascular Type EDS is caused by structural defects in the proa` 1 (III) chain of collagen type III encodes by COL3A1. Inheritance: Autosomal dominant.
Vascular Ehlers-Danlos – Dr. Diana Driscoll
Hal Dietz on the future of Ehlers-Danlos Syndrome
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