Ehlers-Danlos syndrome comprises a heterogeneous group of collagen disorders (hereditary connective tissue disease).
There is a recognized male predominance.
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 .
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
These are best discussed according to system.
Soft tissue findings
- multiple ovoid calcifications (<1 cm) in the subcutaneous tissue
- ectopic ossification
- hemarthrosis (especially knees)
- recurrent dislocation: including spontaneous dislocation of the temporomandibular joint
- precocious osteoarthritis
- diaphragmatic hernia
- fragile blood vessels
- arterial aneurysm formation
- increased occurrence of arterial dissection: aortography contraindicated
- ectasiae of the gastrointestinal tract