The Ehlers Danlos syndrome comprises a heterogenous group of collagen disorders (hereditary connective tissue disease).
There is a recognised male predominance.
Clinically manifests by skin hyperelasticity and fragility, joint hyperimmobility and blood vessel fragility with bleeding diathesis 1.
There is poor tissue healing with delayed healing with tissue paper like scarring 1.
There are at least ten sub-types with variable inheritance patterns. The majority are autosomal dominant.
- types I,II and III are autosomal dominant with a unknown biochemical origin.
- type IV 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 mutation in the gene that encodes lysl hydroxylase
- type VII is autosomal dominant . It results from COL1A1 and COL1A2 mutation that result in defective conversion of procollagen to collagen.
- types V, VIII, IX and X are very rare and their features have not been fully described 1
These are best discussed according to system.
Soft tissue findings include
- multiple ovoid calcifications (< 1cm ) in subcutaneous tissue
- ectopic ossification 2
Skeletal findings include
- haemarthrosis ( esp. knees)
- recurrent dislocation-including spontaneous dislocation of TMJ 3
- precocious osteoarthritis
Chest / thoracic findings include
- diaphragmatic hernia
- fragile blood vessels
- arterial aneurysm formation
- increased occurence of arterial dissection : aortography contraindicated 2
Gastrointestinal findings include
- ectasiae of gastrointestinal tract
- 1. Kumar P, Clark ML. Kumar & Clark's clinical medicine. Saunders Ltd. (2009) ISBN:0702029939. Read it at Google Books - Find it at Amazon
- 2. Dähnert W. Radiology review manual. Lippincott Williams & Wilkins. (2007) ISBN:0781738954. Read it at Google Books - Find it at Amazon
- 3. Dixon AK, Adams A. Diagnostic Radiology. Churchill Livingstone. (2007) ISBN:0443101639. Read it at Google Books - Find it at Amazon
Synonyms & Alternative Spellings
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