Inheritance: autosomal dominant
Biochemical Defect: pro-alpha1(III) chain of collagen type III, encoded on COL3A1
Major criteria:
(1) thin translucent skin
(2) fragility of arteries, intestine and uterus with risk of rupture (spontaneous arterial rupture; arterial dissections; colonic perforation; intrapartum uterine rupture with massive hemorrhage; vaginal and perineal tears during vaginal delivery)
(3) extensive bruising
(4) characteristic facial appearance, associated with decreased subcutaneous adipose tissue (nose thin and pinched; thin lips; tight lips with perioral wrinkling; hollow cheeks; prominent, staring eyes; lobeless ears)
Minor criteria:
(1) acrogeria (premature aging of the extremities with wrinkling of the skin)
(2) hypermobility of small joints (usually limited to the fingers and toes)
(3) tendon and muscle ruptures
(4) talipes equinovarus
(5) early onset varicose veins
(6) prominent veins seen over the thorax and abdomen
(7) arteriovenous fistulas, fistula of carotid artery to cavernous sinus
(8) pneumothorax, pneumohemothorax
(9) gingival recession
(10) decreased subcutaneous adipose tissue in limbs
(11) wound dehiscence following surgery
(12) pretibial bruising with hemosiderosis
(13) joint contractures in the hands
(14) sudden death in first degree relatives, usually due to rupture of an artery
The presence of >= 2 major criteria is highly suggestive of the diagnosis. Diagnosis in children may be difficult in the absence of a family history.
Confirmation depends on laboratory testing demonstrating either structurally abnormal collagen type III from fibroblasts or mutation in COL3A1.
