Ehlers-Danlos syndrome

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

Radiographic features

These are best discussed according to system.

Soft tissue findings
  • multiple ovoid calcifications (<1 cm) in the subcutaneous tissue
  • ectopic ossification
Skeletal findings
Thoracic findings
Gastrointestinal findings
  • ectasiae of the gastrointestinal tract
Vascular findings