Ehlers-Danlos syndrome comprises a heterogeneous group of collagen disorders (hereditary connective tissue disease).
There is a recognised male predominance.
Clinically manifests by skin hyperelasticity and fragility, joint hypermobility 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 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 4) 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 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
- multiple ovoid calcifications (< 1cm) in the subcutaneous tissue
- ectopic ossification 2
- haemarthrosis (especially knees)
- recurrent dislocation-including spontaneous dislocation of the temporomandibular joint 3
- precocious osteoarthritis
- diaphragmatic hernia
- fragile blood vessels
- arterial aneurysm formation
- increased occurrence of arterial dissection: aortography contraindicated 2
- ectasiae of the 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
- 4. Zilocchi M, Macedo TA, Oderich GS et-al. Vascular Ehlers-Danlos syndrome: imaging findings. AJR Am J Roentgenol. 2007;189 (3): 712-9. doi:10.2214/AJR.07.2370 - Pubmed citation
- 5. Ayres JG, Pope FM, Reidy JF et-al. Abnormalities of the lungs and thoracic cage in the Ehlers-Danlos syndrome. Thorax. 1985;40 (4): 300-5. doi:10.1136/thx.40.4.300 - Free text at pubmed - Pubmed citation