Ehlers-Danlos syndrome

Hyperelastic

skin in a person with Ehlers-Danlos syndrome.

School ager

with abdominal pain who is now unresponsive. Axial CT with contrast of the abdomen shows an intimal flap in the superior mesenteric artery and a large retroperitoneal hematoma.The diagnosis was spontaneous dissection with a bleeding pseudoaneurysm of the superior mesenteric artery in a patient with Ehlers-Danlos syndrome.

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Ehlers-Danlos syndrome comprises a heterogeneous group of collagen disorders (hereditary connective tissue disease).

Epidemiology

There is a recognized male predominance.

Clinical presentation

Clinically manifests by skin hyperelasticity and fragility, joint hypermobility and blood vessel fragility with bleeding diathesis .

There is poor tissue healing with delayed healing with tissue paper like scarring .

Subtypes

There are at least ten subtypes with variable inheritance patterns. The majority are autosomal dominant:

types I, II and III are autosomal dominant with an unknown biochemical origin.
type IV (also called vascular Ehlers-Danlos syndrome ) is autosomal dominant and involves the arteries, GI tract, uterus and skin; COL3A1 mutation result in type III collagen production
type VI is recessively inherited. It results from a mutation in the gene that encodes lysyl hydroxylase
type VII is autosomal dominant. It results from COL1A1 and COL1A2 mutation that results in defective conversion of procollagen to collagen
types V, VIII, IX and X are very rare and their features have not been fully described