Ehlers-Danlos syndrome

Ehlers-Danlos syndrome describes a group of inherited connective tissue disorders. There are several different types, but the common features exhibited to various degrees in all types are: 
  • Joint hypermobility 
  • Skin hyperextensibility 
  • Fragile skin 

The majority of types are inherited in an autosomal dominant fashion. 

4 of the types of Ehlers-Danlos syndrome are briefly described below: 
  • Classical type (type I and II) 
    • Key features 
      • Fragile skin which heals with ‘cigarette paper’ scars 
      • Hypermobile joints 
  • Hypermobility type (type III) 
    • Most prominent features is hypermobile joints 
    • May have chronic joint pain 
  • Vascular type (type IV) 
    • Sometimes considered the ‘malignant’ form of Ehlers-Danlos syndrome due to risk of 
      • spontaneous rupture of arteries 
      • spontaneous rupture of bowel 
    • Skin appears translucent and thin but is only mildly hyperextendable 
    • Widespread bruising 
    • Characteristic facial appearance – sunken eyes, prominent cheekbones 
    • type III collagen affected

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